Medline Abstracts, Arthrogryposis, 1989-96

Toxicol Lett 1996 Dec 31;89(3):175-83

Comparison of nicotinic receptor binding and biotransformation of coniine in the rat and chick.

Forsyth CS, Speth RC, Wecker L, Galey FD, Frank AA

Biomedical and Environmental Information Analysis Section, Oak Ridge National Laboratory, TN 37830, USA.

Coniine, an alkaloid from Conium maculatum (poison hemlock), is a known teratogen in many domestic species with maternal ingestion resulting in arthrogryposis of the offspring. We have previously shown that rats are not susceptible and rabbits only weakly susceptible to coniine-induced arthrogryposis. However, the chick embryo does provide a reproducible laboratory animal model of coniine-induced teratogenesis. The reason for this cross-species variation is unknown. The purpose of this study was to evaluate coniine binding to nicotinic receptors and to measure coniine metabolism in vitro between susceptible and non-susceptible species. Using the chick model, neither the peripheral nicotinic receptor antagonist d-tubocurarine chloride nor the central nicotinic receptor antagonist trimethaphan camsylate blocked the teratogenesis or lethality of 1.5% coniine (50 microliters/egg). Trimethaphan camsylate enhanced coniine-induced lethality in a dose-dependent manner. Neither nicotinic receptor blocker prevented nicotine sulfate-induced malformations but d-tubocurarine chloride did block lethality in a dose-dependent manner. Competition by coniine for [125I]-alpha-bungarotoxin to nicotinic receptors isolated from adult rat diaphragm and chick thigh muscle and competition by coniine for [3H]-cytisine to receptors from rat and chick brain were used to assess coniine binding to nicotinic receptors. The IC50 for coniine in rat diaphragm was 314 microM while that for chick leg muscle was 70 microM. For neuronal nicotinic receptors, the IC50s of coniine for maternal rat brain, fetal rat brain, and chick brain were 1100 microM, 820 microM, and 270 microM, respectively. There were no differences in coniine biotransformation in vitro by microsomes from rat or chick livers. Differences in apparent affinity of coniine for nicotinic receptors or differences in the quantity of the nicotinic receptor between the rat and chick may explain, in part, the differences in susceptibility of coniine-induced teratogenesis between these two species.

MeSH Terms:

• Abnormalities, Drug-Induced/metabolism*
• Alkaloids/toxicity
• Alkaloids/pharmacokinetics*
• Analgesics/toxicity
• Analgesics/pharmacokinetics*
• Animal
• Biotransformation
• Brain/metabolism
• Brain/drug effects
• Chick Embryo
• Comparative Study
• Embryo, Nonmammalian/drug effects
• Male
• Microsomes, Liver/metabolism
• Microsomes, Liver/drug effects
• Muscle, Skeletal/metabolism
• Muscle, Skeletal/drug effects
• Nicotinic Antagonists/pharmacokinetics*
• Rats
• Rats, Sprague-Dawley
• Support, U.S. Gov't, Non-P.H.S.
• Survival Rate

Substances:

• coniine
• Nicotinic Antagonists
• Analgesics
• Alkaloids

PMID: 9001585, UI: 97154871

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Am J Med Genet 1996 Dec 30;66(4):475

Transient neonatal arthrogryposis: another case.

Robinow M, Miller M

Publication Types:

• Letter

MeSH Terms:

• Arthrogryposis*/physiopathology
• Arthrogryposis*/genetics
• Case Report
• Human
• Infant, Newborn
• Male

PMID: 8989472, UI: 97143461

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Neuropediatrics 1996 Dec;27(6):305-10

Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?

Seidahmed MZ, Sunada Y, Ozo CO, Hamid F, Campbell KP, Salih MA
Department of Pediatrics, Security Forces Hospital, Riyadh.

We report on two sisters of first degree cousin parents who were born with severe hypotonia, arthrogryposis multiplex congenita (AMC) and dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. They needed assisted ventilation and each died at the age of 5 months. Both had type II lissencephaly (cobblestone lissencephaly) which was visualized by magnetic resonance imaging (MRI) in the proband. Ophthalmic evaluation revealed no ocular malformations in either of them. Brain auditory evoked potentials (BAEP) revealed bilateral severe sensorineural hearing loss in the proband, whereas an MRI-guided open muscle biopsy of the sartorius muscle (the only remaining thigh muscle) showed features of muscular dystrophy. Immunohistochemistry revealed normal dystrophin, dystrophin-associated glycoproteins (DAG) and merosin. Certain clinical and pathological features distinguish the disease seen in these sisters from reported isolated cases where lethal AMC was associated with brain dysplasia and from the main syndromes of congenital muscular dystrophy/cobblestone lissencephaly. Differences from the Walker-Warburg syndrome, which simulates it in severity, included the absence of severe hydrocephalus, normal creatine kinase (for age) and minimal (mainly periventricular) white matter abnormalities. The findings suggest either an independent entity, in the studied family, or an allelic variation of the cobblestone lissencephaly (type II lissencephaly) syndrome.

MeSH Terms:

• Arthrogryposis/complications*
• Brain/abnormalities
• Case Report
• Diagnosis, Differential
• Evoked Potentials, Visual
• Fatal Outcome
• Female
• Human
• Infant, Newborn
• Magnetic Resonance Imaging
• Muscle, Skeletal/ultrastructure
• Muscular Dystrophy*/diagnosis
• Muscular Dystrophy*/complications
• Muscular Dystrophy*/congenital

PMID: 9050048, UI: 97202529

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J Clin Invest 1996 Nov 15;98(10):2358-63

Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function.

Riemersma S, Vincent A, Beeson D, Newland C, Hawke S, Vernet-der Garabedian B, Eymard B, Newsom-Davis J
Neurosciences Group, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom.

Arthrogryposis multiplex congenita (AMC), characterized by multiple joint contractures developing in utero, results from lack of fetal movement. Some cases are genetically determined, but AMC occasionally complicates pregnancy in patients with myasthenia gravis (MG) suggesting involvement of circulating maternal antibodies. We previously demonstrated antibodies that inhibited the function of fetal acetylcholine receptor (AChR) in one healthy woman with an obstetric history of recurrent AMC. Here we study sera from this woman, from one other with a similar history, and from three (one asymptomatic) whose babies had neonatal MG and AMC. All five maternal sera had high titers of antibodies that inhibited alpha-Bungarotoxin (alpha-BuTx) binding to fetal AChR, and their sera markedly inhibited fetal AChR function with little effect on adult AChR function. Moreover, in a further survey, 3 of 20 sera from anti-AChR negative AMC mothers inhibited fetal AChR function significantly at 1:100 dilution. These results demonstrate the role of antibodies to fetal AChR and perhaps other muscle antigens in some cases of AMC. More generally, they suggest that placental transfer of antibodies directed at fetal antigens should be considered as a cause of other recurrent fetal or perinatal disorders.

MeSH Terms:

• Adult
• Antibodies, Blocking/immunology*
• Antibodies, Monoclonal/immunology
• Arthrogryposis/immunology*
• Arthrogryposis/etiology
• Arthrogryposis/complications
• Bungarotoxins/immunology
• Case Report
• Female
• Fetal Diseases/immunology*
• Human
• IgG/immunology
• Myasthenia Gravis/immunology*
• Myasthenia Gravis/complications
• Precipitin Tests
• Pregnancy
• Receptors, Cholinergic/physiology
• Receptors, Cholinergic/immunology*
• Seroepidemiologic Methods
• Support, Non-U.S. Gov't

Substances:

• Receptors, Cholinergic
• IgG
• Bungarotoxins
• Antibodies, Monoclonal
• Antibodies, Blocking

PMID: 8941654, UI: 97096808

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Am J Med Genet 1996 Nov 11;65(4):286-90

Extending the spectrum of distal arthrogryposis.

Gripp KW, Scott CI Jr, Brockett BC, Nicholson L, Mackenzie WG
Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

We describe a mother and son with multiple, non-progressive, congenital contractures, camptodactyly and absent flexion creases, expressionless face, blepharophimosis, microstomia, and short stature. Although these cases share similarities with the autosomal-recessive Schwartz-Jampel and Marden-Walker syndromes, they have a different mode of inheritance and lack myotonia, one of the most characteristic findings of the Schwartz-Jampel syndrome. Our cases most closely resemble those previously reported as distal arthrogryposis type IIb, although in our patients the proximal joints are severely affected and extraocular involvement is absent. Hearing loss is present in one and cleft palate in the other of our patients; these findings were previously described in arthrogryposis syndromes other than type IIb. We suggest extending the spectrum of distal arthrogryposis to include these manifestations, since there appears to be significantly overlap between the different syndromes.

MeSH Terms:

• Abnormalities, Multiple/physiopathology*
• Abnormalities, Multiple/genetics
• Adult
• Arthrogryposis/physiopathology*
• Arthrogryposis/genetics
• Case Report
• Face/abnormalities
• Female
• Foot Deformities, Congenital/physiopathology*
• Foot Deformities, Congenital/genetics
• Hand Deformities, Congenital/physiopathology*
• Hand Deformities, Congenital/genetics
• Human
• Male

PMID: 8923937, UI: 97082701

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Am J Med Genet 1996 Nov 11;65(4):282-5

Distal arthrogryposis type 1: clinical analysis of a large kindred.

Bamshad M, Bohnsack JF, Jorde LB, Carey JC
Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City 84132-1001, USA.

We describe the clinical findings of 15 individuals in a large kindred affected with distal arthrogryposis type 1A (DA1A). The most consistent findings among individuals were overlapping fingers at birth, abnormal digital flexion creases, and foot deformities, including talipes equinovarus and vertical talus. There was marked intrafamilial variation in the expression of DA1A. Linkage mapping of the locus for DA1A suggests that the use of strict diagnostic criteria excludes unaffected individuals rigorously, but can produce incomplete ascertainment of affected individuals. In the context of an affected family, the range of phenotypes consistent with a diagnosis of DA1A needs to be expanded.

MeSH Terms:

• Arthrogryposis/physiopathology*
• Female
• Foot Deformities, Congenital/physiopathology*
• Hand Deformities, Congenital/physiopathology*
• Human
• Male
• Pedigree
• Phenotype
• Support, Non-U.S. Gov't
• Support, U.S. Gov't, Non-P.H.S.
• Support, U.S. Gov't, P.H.S.

Grant support:

• 5-P30-HG00199/HG/NHGRI
• RR-00064/RR/NCRR

PMID: 8923936, UI: 97082700

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Am J Med Genet 1996 Nov 11;65(4):277-81

A revised and extended classification of the distal arthrogryposes.

Bamshad M, Jorde LB, Carey JC
Department of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, USA.

Since the group of disorders known as the distal arthrogryposes (DAs) were defined, additional disorders characterized by multiple congenital contractures of the distal limbs were described, and the distribution of phenotypic findings in the DAs has been expanded. The breadth of disorders labeled as DAs has diminished the usefulness of the DA classification. We propose a strict definition of DA and diagnostic criteria for DA disorders. Subsequently, we use these standards and propose a revised classification of discrete conditions that should be labeled DAs. Optimally, this serves as a framework for a DA classification based on underlying molecular and physiologic abnormalities.

Publication Types:

• Review
• Review, tutorial

MeSH Terms:

• Arthrogryposis/physiopathology
• Arthrogryposis/classification*
• Extremities/abnormalities*
• Human
• Support, Non-U.S. Gov't
• Support, U.S. Gov't, P.H.S.

Grant support:

• RR-00064/RR/NCRR

PMID: 8923935, UI: 97082699

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Pediatr Neurol 1996 Nov;15(4):348-51

Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria.

Hevner RF, Horoupian DS
Department of Pathology (Neuropathology); Stanford University Medical Center, California 94305-5324, USA.
Autopsy examination of an infant with the Pena-Shokeir phenotype revealed bilateral opercular polymicrogyria associated with neuronal loss and ferrugination in the basal ganglia, thalamus, brainstem, and spinal anterior horns. Bilateral opercular polymicrogyria previously has been linked to the developmental form of Foix-Chavany-Marie syndrome, or faciopharyngoglossomasticatory diplegia. In the Pena-Shokeir phenotype, bilateral opercular polymicrogyria may contribute to deficits in swallowing and facial movements. The pattern of brain and spinal cord injury in this case supports previous suggestions that the Pena-Shokeir phenotype (and certain other forms of arthrogryposis multiplex congenita) may be caused by hypoxic-ischemic injury to the developing central nervous system.

MeSH Terms:

• Abnormalities, Multiple/pathology*
• Abnormalities, Multiple/genetics
• Brain/pathology
• Brain/abnormalities*
• Case Report
• Dominance, Cerebral/physiology*
• Female
• Fetal Anoxia/pathology
• Human
• Infant, Newborn
• Nerve Degeneration/physiology
• Neurons/pathology
• Phenotype
• Risk Factors
• Spinal Cord/pathology

PMID: 8972538, UI: 97127787

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Vet Pathol 1996 Nov;33(6):672-81

Hydranencephaly, cerebellar hypoplasia, and myopathy in chick embryos infected with aino virus.

Kitano Y, Ohzono H, Yasuda N, Shimizu T
Laboratory of Veterinary Pathology, Faculty of Agriculture, University of Kagoshima, Japan.

Pathogenesis of Aino virus (AIV), a suspected causative agent of congenital abnormalities of calves, has not yet been established by experimental infection of dams. To investigate the pathogenesis, 10(3) median tissue culture infective doses per 0.2 ml of AIV strain JaNAr 28 was inoculated into the yolk sac of 8-day-old chick embryos. At 4, 7, 10, and 13 days post-inoculation (PI) 20 eggs were opened and macro- and microscopic studies combined with virus recovery and immunohistochemical detection of the virus antigen were performed. At 7 to 13 days PI chick embryos manifested marked hydranencephaly, cerebellar hypoplasia, arthrogryposis, and scoliosis, with the highest incidences of 86.7%, 73.3%, 80.0%, and 20.0%, respectively. At 4 days PI the viral antigen was found in nerve cells, gitter cells in mild necrotic foci of the central nervous system (CNS), degenerative myotubules, and macrophages in the interstitium, which was associated with the early phase of AIV-induced encephalitis and polymyositis, with occasional accompanying hemorrhage and clumping of myotubular fragments. From 7 to 10 days PI, AIV antigen increased markedly in the liquefactive necrosis and in both degenerative and normal-looking myotubules in conjunction with developing hydranencephaly and arthrogryposis. The encephalitis and myositis had a tendency to mitigate by 10 days PI, coincident with a slight decrease in amount of AIV antigen. At 13 days PI there was almost no detectable AIV antigen in CNS and skeletal muscles, probably due to depletion of cells having affinity to AIV.

MeSH Terms:

• Animal
• Antigens, Viral/analysis
• Arthrogryposis/veterinary*
• Arthrogryposis/pathology
• Arthrogryposis/epidemiology
• Bunyaviridae Infections/veterinary*
• Bunyaviridae Infections/pathology
• Bunyaviridae Infections/epidemiology
• Central Nervous System/virology
• Central Nervous System/pathology
• Cerebellar Diseases/veterinary*
• Cerebellar Diseases/pathology
• Cerebellar Diseases/epidemiology
• Cerebellum/virology
• Cerebellum/pathology
• Chick Embryo/virology*
• Chick Embryo/pathology*
• Encephalitis/veterinary
• Encephalitis/pathology
• Encephalitis/epidemiology
• Fetal Development/physiology
• Hydranencephaly/veterinary*
• Hydranencephaly/pathology
• Hydranencephaly/epidemiology
• Immunohistochemistry/methods
• Incidence
• Muscle, Skeletal/virology
• Muscle, Skeletal/pathology
• Myositis/veterinary
• Myositis/pathology
• Myositis/epidemiology
• Poultry Diseases/virology
• Poultry Diseases/pathology*
• Poultry Diseases/epidemiology
• Simbu Group Viruses/isolation & purification*
• Simbu Group Viruses/immunology
• Time Factors

Substances:

• Antigens, Viral

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Am J Med Genet 1996 May 3;63(1):293-300
NLM CIT. ID: 96298288

Arthrogryposis associated with unsuccessful attempts at termination of pregnancy.

Hall JG
Department of Pediatrics and Medical Genetics, British Columbia's Children's Hospital, University of British Columbia, Vancouver, Canada.

We report three cases of failed termination of pregnancy in which the children were subsequently born with arthrogryposis (AMC) (multiple congenital contractures). Arthrogryposis is a sign with many causes. We suggest that the multiple congenital contractures seen in these children are due to vascular compromise during the attempted termination with secondary loss of functional neurons leading to fetal akinesia and subsequent contractures. Two of the children have additional evidence of intrauterine vascular compromise. Limitation of movement secondary to the rupture of the fetal membranes and continuous leakage of amniotic fluid after the attempted termination may have compounded the contractures in two of the children.

Publication types:

• Journal Article
• Review
• Review of Reperted Cases

Language:

• English

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J Oral Maxillofac Surg 1996 Aug;54(8):956-9
NLM CIT. ID: 96339374

Incidence of maxillofacial involvement in arthrogryposis multiplex congenita.

Steinberg B; Nelson VS; Feinberg SE; Calhoun C
Section of Oral and Maxillofacial Surgery, University of
Michigan, Ann Arbor 48109-0018, USA.

PURPOSE: This study determined the incidence of maxillofacial involvement in patients diagnosed with arthrogryposis multiplex congenita (AMC).
PATIENTS AND METHODS: Twenty-three patients were evaluated by the pediatric physical medicine and rehabilitation, orthopedic surgery, and pediatric oral and maxillofacial surgery departments. Any patient in whom the diagnosis of AMC was in doubt was excluded from the study. All patients with limited mandibular function underwent computed tomography (CT) examination of their temporomandibular joints (TMJ). The results of physical therapy were followed. RESULTS: Five of the 23 patients diagnosed with AMC were found to have maxillofacial involvement, eg, presence of cleft palate, Robin-like sequence, high-arched palate, open-bite deformity, facial muscle weakness, esophageal dysfunction, and limited mandibular opening. No TMJ abnormalities were found by CT scan. Physical therapy was used for treatment of the limited opening, but relapse occurred quicky after therapy was discontinued.
CONCLUSION: The incidence of maxillofacial findings is similar to that of most other reports. Treatment involves surgical correction of abnormal anatomy when possible (ie, cleft repair), symptomatic management (ie, esophageal dysfunction), and physical therapy.

Publication Types:

• Journal Articles

Language:

• English

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J Pediatr Orthop 1996 Jan-Feb;16(1):127-30
NLM CIT. ID: 96359631

Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis.

Szoke G; Staheli LT; Jaffe K; Hall JG
Department of Orthopedics, Children's Hospital and Medical Center, Seattle, Washington 98105, USA.

In 95 children with amyoplasia-type arthrogryposis multiplex congenita, 40 hip dislocations in 26 patients were found. In 16 of these 26 patients, bilateral (nine patients) and unilateral (seven patients) dislocations were reduced by a medial-approach open reduction. The mean age at the time of surgery was 8.9 months. Acetabular development was satisfactory. Complications included one early redislocation, two hips with stiffness, and four of 25 hips with avascular necrosis (types 1 and 2). Overall 80% (five of seven unilateral, 15 of 18 bilateral hips) were rated good and 12% fair, and 8% (one of seven unilateral, one of 18 bilateral) were poor. Stiffness or asymmetry was not observed in the nine bilateral cases. This study suggests that dislocations in infants with amyoplasia may be successfully reduced by medial-approach open reduction. Bilateral reduction and concurrent correction of other lower limb contractures may be accomplished during the same surgical session.

Publication Types:

• Journal Articles

Language:

• English

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J Pediatr Orthop 1996 Jan-Feb;16(1):122-6
NLM CIT. ID: 96359630

Distal femoral extension osteotomy for knee flexion contracture in patients with arthrogryposis.

DelBello DA; Watts HG
Shriners Hospital for Crippled Children, Los Angeles, California, USA.

Severe knee flexion contractures in patients with arthrogryposis multiplex congenita were treated by distal femoral extension osteotomy. Thirty-two operations were followed for an average of 32 months. Contractures were corrected from 49 degrees to 6
degrees. During follow-up there was a loss of correction of 22 degrees at a rate of 0.9 degrees/ month. The angle of the distal femoral physis and the shaft of the femur was 2 degrees of flexion preoperatively, and postoperatively it measured 43 degrees of extension and at late follow-up it measured 19 degrees. Remodeling occurred at a rate of 1.0 degrees/month, which correlated with recurrence. All patients increased their ambulatory ability at least one level. There was one wound infection. Distal femoral extension osteotomy is effective and safe for the correction of knee flexion contracture. Recurrence occurs in all growing children.

Publication Types:

• Journal Articles

Language:

• English

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Vet Clin North Am Food Anim Pract 1996 Mar;12(1):85-116
NLM CIT. ID: 96250552

Diagnosis and management of tendon disorders in cattle.

Anderson DE; St. Jean G
Department of Veterinary Clinical Sciences, College of Veterinary Medicine, Ohio State University, Columbus, USA.

Diagnosis and treatment of congenital and acquired tendon disorders in cattle are discussed. A brief discussion of tendon structure, anatomy, biomechanics, and healing is included. Congenital abnormalities presented include hyperextension deformities, flexural deformities, arthrogryposis, and spastic paresis. Acquired abnormalities discussed include tendon displacement, tendinitis, tendon disruption, and tenosynovitis. Antibiotic selection for musculoskeletal infections is briefly discussed.

Publication Types:

• Journal Article
• Review
• Review, Tutorial

Language:

• English

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Pediatrics 1996 Aug;98(2 Pt 1):308-10
NLM CIT. ID: 96309734

The role of the pediatrician in prescribing therapy services for children with motor disabilities.

American Academy of Pediatrics
Committee on Children With Disabilities.

Pediatricians are often called upon to prescribe physical and occupational therapy service for children with motor disabilities. This statement defines the context in which
rehabilitation therapies should be prescribed, emphasizing the identification and enhancement of the child's function and abilities. The statement encourages the pediatrician to work with teams including the parents, child, teachers, therapists, and other physicians.

Publication Types:

• Journal Article
• Guideline
• Practical Guideline

Language:

• English

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Neuropediatrics 1996 Feb;27(1):8-15
NLM CIT. ID: 96269056

Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings.

Rudnik-Schoneborn S; Forkert R; Hahnen E; Wirth B; Zerres K
Institute for Human Genetics, University of Bonn, Germany.

With the evidence of deletions in the region responsible for autosomal recessive spinal muscular atrophy (SMA) on chromosome 5, it is now possible to further clarify the clinical and diagnostic findings in proximal SMA. Homozygous deletions of the survival motor neuron (SMN) gene can be detected in about 95% of patients with early onset SMA. In a series of more than 200 patients, we tested 31 patients with atypical features of SMA who fulfilled at least one exclusion criterion according to the diagnostic criteria of the International SMA Consortium for the presence of SMN gene deletions. The patients were subdivided into two groups: 1. Seven index patients being not deleted for the SMN gene who belonged to a well-defined SMA plus variant that has already been shown to be unlinked with chromosome 5q markers: diaphragmatic SMA, SMA plus olivopontocerebellar hypoplasia, SMA with congenital arthrogryposis and bone fractures. 2. Twenty-four patients with clinical signs of SMA and neurogenic findings in EMG/muscle biopsy who had unusual features or other organ involvement. In order to structure this heterogeneous group, each patient was assigned to a subgroup according to the leading atypical feature. In 5 out of 8 unrelated patients with a history
of preterm birth and/or perinatal asphyxia leading to a picture of severe SMA in combination with respiratory distress and/or cerebral palsy, no deletion of the SMN gene could be detected. There were five unrelated patients with extended central nervous system involvement (cerebral atrophy, EEG abnormalities, pyramidal tract signs, evidence of cerebellar involvement). Most of these patients (4/5) proved to belong to SMA 5q on the basis of SMN gene deletion findings. The same applied to a group of three patients with classical SMA in association with congenital malformations (mainly heart defect). A fourth group of three patients was characterized mainly by an unusual improvement of the condition; in these patients no SMN gene deletions were present. In three index patients a more complex syndrome of the CNS and other organs was suggested, but the detection of SMN gene deletions in two of them made a coincidence of features more likely. In addition, SMN gene deletions were found in two patients with evidence of congenital fibre type dysproportion in one and extremely raised CK activity ( > 10fold) in the other. While the confirmation of SMN gene deletions is very useful in cases with diagnostic doubts, caution is required when offering prenatal prediction with regard to SMA 5q in families with atypical features. There is strong evidence that there are clinical entities resembling SMA which most likely have another pathogenetic background.

Publication Types:

• Journal Article

Language:

• English

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Neuropediatrics 1996 Feb;27(1):54-6
NLM CIT. ID: 96269064

Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin.

Baker EM; Khorasgani MG; Gardner-Medwin D; Gholkar A; Griffiths PD
Department of Neuroradiology, Newcastle General Hospital, UK.

A case of neurogenic arthrogryposis multiplex congenita (AMC) with associated neuronal migration abnormalities is described. A child with neurogenic AMC and developmental delay presented with late onset of seizures. The first trimester of the mother's pregnancy was marked by an episode of gastro-enteritis and the intrauterine death of a twin fetus. Computer tomography (CT) and magnetic resonance (MR) imaging demonstrated abnormal neuronal migration consisting of bilateral parietal polymicrogyria, and an isolated grey matter heterotopia.

Publication Types:

• Journal Article

Language:

• English

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Dev Med Child Neurol 1996 Jan;38(1):80-3
NLM CIT. ID: 96189930

Arthrogryposis multiplex congenita, AD 1156.

Gordon EC

A case of arthrogryposis multiplex congenita in an eight-year-old girl was recounted by Thomas of Monmouth in a mid twelfth-century English hagiographic narrative, The Life and Miracles of St William of Norwich. The child had deformities of both hands and both feet at birth, and she developed torticollis and probably had some degree of hypotonia. She needed total care, her family took her to the tomb of St William in the cathedral at Norwich. This visit produced some sort of improvement in her health. Her
parents, seeking a miracle, were satisfied that one had occurred.

Publication Types:

• Journal Article

Language:

• English

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Pediatrics 1996 Feb;97(2):225-31
NLM CIT. ID: 96160389

Amyoplasia, the most common type of arthrogryposis: the potential for good outcome.

Sells JM; Jaffe KM; Hall JG
Department of Pediatrics, University of Washington, Seattle, USA.

BACKGROUND: Amyoplasia is the most commonly seen diagnostic subgroup of children with arthrogryposis. The natural history of these children has not been well described previously.
METHODS: Review of the medical records of 38 children with amyoplasia enabled us to describe their birth characteristics, therapeutic interventions, and functional outcomes.
RESULTS: Eighty-four percent of the children had symmetrical, four-limb involvement,
which was similar to the original descriptions of amyoplasia, at birth. There was an average of 5.7 orthopedic procedures per child, and the children had multiple castings and splintings of their limbs and participated in physical and occupational therapy on a regular basis. By the age of 5 years, 85% were ambulatory, most were relatively or completely independent in their activities of daily living, and most were in regular classrooms at the appropriate grade level.
CONCLUSION: Although children with amyoplasia have pronounced musculoskeletal involvement at birth, which requires orthopedic and rehabilitative interventions during their childhood, their functional outcome in both physical and educational areas is excellent.

Publication Types:

• Journal Article

Language:

• English

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J Assoc Physicians India 1995 Apr;43(4):291-2
NLM CIT. ID: 96286666

The myopathic variety of arthrogryposis multiplex congenita.

Padma MV; Sharma AK; Gaikwad S; Maheshwari MC
Department of Neurology and Neuro-Radiology,
All India Institute of Medical Sciences, New Delhi.

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Eur J Pediatr Surg 1995 Dec; 5 Suppl 1:12-5
NLM CIT. ID: 96366393

Helping to solve problems associated with spina bifida.

West M; Fjeldvik L; Rand-Hendriksen S
Counselling and Rehabilitation Center (TRS),
Sunnaas Rehabilitation Hospital, Nesoddtangen, Norway.

A Presentation of the TRS Project: Counselling and (Re)habilitation Center. A Model Project in Organizing Services for Low Frequency Diagnostic Groups. Persons with low frequency disabilities often require services from a number of professions. The patient organizations claim that the patients themselves often have to coordinate their own treatment. The TRS project has been established as one of the initiatives under the Norwegian Government's Plan of Action for the Disabled. The project is one of three national projects designed to develop models for the coordination of services for persons with low frequency congenital disabilities. The TRS project deals with the following five diagnoses: Marfan syndrome, arthrogryphosis multiplex congenita, myelomeningocele/spina bifida, osteogenesis imperfecta and congenital limb deficiency. The project is based on patient (user) participation. The five patient organizations are represented on the board where they are in the majority. Patients along with professionals give lectures during group stays. The project offers its services to persons with the diagnosis from all parts of Norway (4.3 mill. inhabitants). Persons with spina bifida over 16 years are included in the project, as well as persons with the other diagnoses at all ages. We present the organization of the project and the repertoire of services that are on offer. 2. Cognitive Deficits Often Seen in Young Adults with Spina Bifida: Effects in the School and Work Place. As survival rates continue to increase with the use of shunting procedures for persons with spina bifida (SB), the need for improved educational and vocational planning also increases. Orbeck and Schanke reported that the cognitive deficits of young adults with SB have not received enough attention in educational and vocational planning. A thorough description of these deficits will aid in developing more effective individualized planning. With improved planning, insight into alternative methods for improving support may also then be investigated. The purpose of this study is to better define and describe the cognitive deficits often encountered while planning support in the school and work place for this group. Neuropsychological examinations are the basis for this description of observed cognitive deficits. The study included 46 young adults with SB aged 15 to 38 living in Norway. All persons were given a neuropsychological test battery which included tests for attention, memory, speed of information processing, visual perception and visual constructive function, arithmetic, fine motor coordination, and verbal functioning. The results indicated deficits in fine motor coordination, speed of information processing, and a slow learning curve. The consequences of these deficits in educational and vocational planning are discussed and guidelines for further studies are suggested.

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Eur J Obstet Gynecol Reprod Biol 1995 Nov;63(1):95-6
NLM CIT. ID: 96235697

Pelvic kidney: a rare cause of obstetrical obstruction.

Zwertbroek W; Ter Brugge HG
Department of Obstetrics and Gynaecology,
Hospital De Weezenlanden, Zwolle, Netherlands.

This case report presents a patient with a pelvic kidney. The child was delivered by caesarean section because of obstruction of the birthcanal. A relation with amyoplasia congenita in the newborn is presumed. The literature of the pelvic kidney and its implications in pregnancy is reviewed.

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Pediatr Pathol Lab Med 1995 Jul-Aug;15(4):617-37
NLM CIT. ID: 96170403

Lethal arthrogryposis multiplex congenital (fetal akinesia deformation sequence, FADS).

Porter HJ
Department of Paediatric Pathology,
St. Michael's Hospital, Bristol, United Kingdom.

Arthrogryposis multiplex congenital (AMC) is the presence at birth of multiple congenital contractures in an intact skeleton. The severity of the condition is highly variable and the possible underlying causes are numerous. Fetal immobility and lesions of the brain, spinal cord, peripheral nerves and muscle, along with mechanical restriction of the fetus in utero are the pathogenic mechanisms that need to be considered. Etiological factors that have been implicated in the development of AMC include genetic conditions, infections, drugs, toxins, maternal hyperthermia, and maternal illness. This review will concentrate on the severe end of the spectrum of AMC that results in disease that is lethal pre- or postnatally, and will discuss the pathology, pathogenesis, etiology, and practical approach to this diversely expressed condition.

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Am J Med Genet 1995 Aug 28;58(2):125-7
NLM CIT. ID: 96042710

Distal arthrogryposis type IIB: further clinical delineation and 54-year follow-up of an index case.

Friedman BD; Heidenreich RA
Department of Pediatrics, Steele Memorial Children's Research Center, College of Medicine, University of Arizona, Tucson 85724, USA.

Distal arthrogryposis IIB is characterized by contractures of the distal joints (especially of the fingers and toes) and ptosis. We recently encountered a father and son with these manifestations. The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal joint contractures, most severe in the hands and feet, as well as ptosis and ophthalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are related to the type of distal arthrogryposis present in this family is not known. In spite of their physical limitations both father and son have maintained an active life-style.

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Prenat Diagn 1995 Jul;15(7):660-4
NLM CIT. ID: 96138879

Prenatal findings in generalized amyoplasia.

Sepulveda W; Stagiannis KD; Cox PM; Wigglesworth JS; Fisk NM
Royal Postgraduate Medical School, Queen Charlotte's and Chelsea Hospital, London, U.K.

Amyoplasia is a rare, sporadic condition characterized by different degrees of maldevelopment of the skeletal muscles, which are replaced by fibrous and fatty tissue. In this report, we present a case of generalized amyoplasia presenting at 19 weeks' gestation. The most striking finding was the absence of fetal movements, resulting in severe multiple congenital contractures, hydrops, and polyhydramnios. At autopsy, histological examination of the skeletal muscle showed small groups of poorly developed fibres within areas of fat. This report suggests that generalized amyoplasia could be a common cause of severe forms of multiple congenital contractures, but is probably underdiagnosed at post-mortem because of inadequate examination of muscles. Definitive diagnosis is important in determining the risks of recurrence in these cases.

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Eur J Pediatr 1995 Oct;154(10):835-9
NLM CIT. ID: 96105643

Arthrogryposis, renal dysfunction and cholestasis syndrome: report of five patients from three Italian families.

Di Rocco M; Callea F; Pollice B; Faraci M; Campiani F; Borrone C
Divisione Pediatria II, Istituto G. Gaslini, Genova, Italy.

We report on five patients from three families with neurogenic arthrogryposis, cholestasis and tubular renal dysfunction. Despite a similar clinical picture the liver histology showed a broad pathological spectrum, ranging from pigment storage to parenchymal giant cell transformation and ductopenia. The findings are compared with those of other cases from the literature in search of a correct nosology of the syndrome characterized by arthrogryposis, renal and liver disease. CONCLUSION. We propose to consider the picture of arthrogryposis, renal tubular dysfunction and cholestasis as a single syndrome.

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Hum Mol Genet 1995 Jul;4(7):1213-6
NLM CIT. ID: 96133298

A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

Kobayashi H; Baumbach L; Matise TC; Schiavi A; Greenberg F; Hoffman EP
Department of Molecular Genetics and Biochemistry,
University of Pittsburgh School of Medicine, PA 15261, USA.

X-linked arthrogryposis Type I (X-linked infantile spinal muscular atrophy) is a rare disorder showing hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and death in infancy. We have studied an X-linked arthrogryposis family using highly polymorphic microsatellite markers throughout the X chromosome. Meiotic breakpoint analysis (concordance analysis) based on shared regions of the founder X chromosome was successful in localizing the X-linked arthrogryposis gene to Xp11.3-q11.2. In this region, the highest two-point lod score was found with DXS991 (Zmax = 2.63, theta = 0.00). In multipoint linkage analysis covering the entire X chromosome, only the region defined by MAOB and DXS991 showed positive lod scores and all other regions showed negative lod scores. These data establish the first gene mapping assignment of an X-linked lethal form of human lower motor neuron disease.

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Prenat Diagn 1995 Aug;15(8):762-4
NLM CIT. ID: 96038484

Ultrasound diagnosis of the Pena Shokeir phenotype at 14 weeks of pregnancy.

Ajayi RA; Keen CE; Knott PD
Directorate of Women's Health Services, Lewisham Hospital NHS
Trust, London, UK.

This report describes the early prenatal diagnosis of the Pena Shokeir phenotype in an at-risk patient at 14 weeks' gestation. The diagnosis was based on an abnormal fetal movement profile, in association with an abnormal position of the fetal limbs. Pena Shokeir phenotype describes an inherited condition characterized by arthrogryposis and dysmorphic features as a result of fetal akinesia. It is a lethal abnormality and early diagnosis allows safer surgical methods of termination.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

J Child Neurol 1995 Jul;10(4):335-7
NLM CIT. ID: 96076043

Epilepsy in the Freeman Sheldon syndrome.

Sackey A; Coulter B; Fryer A; Van Velzen D
West Cumberland Hospital, Whitehaven, Cumbria, England.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Acta Neurol Scand 1995 Jun;91(6):518-9
NLM CIT. ID: 96012359

Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? [letter; comment]

Veggiotti P; Berardinelli A; Fazzi E; Lanzi G

Acta Neurol Scand 1994 Oct;90(4):232-40

Publication Types:

• Comment
• Letter

Language:

• English

[back to list] 

Am J Med Genet 1995 Jul 3;57(3):425-8
NLM CIT. ID: 95407627

Two sisters with Escobar syndrome.

Spranger S; Spranger M; Meinck HM; Tariverdian G
Institute of Human Genetics and Anthropology,
University of Heidelberg, Germany.

We report on 2 sisters with an autosomal-recessive multiple pterygium syndrome, type Escobar, consisting of multiple pterygia with severe contractures, short stature, and minor facial and external genital anomalies. The striking finding was severe muscular atrophy. We speculate that a neuromuscular disorder is the underlying pathogenesis of Escobar syndrome.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Pediatrics 1995 Sep;96(3 Pt 1):521-3
NLM CIT. ID: 95380239

Fetal hypokinesia syndrome in the monochorionic pair of a triplet pregnancy secondary to severe disruptive cerebral injury.

Perlman JM; Burns DK; Twickler DM; Weinberg AG :
Department of Pediatrics, University of Texas Southwestern
Medical Center, Dallas 75235-9063, USA.

We report a set of triplets, two of whom were monochorionic diamnionic and demonstrated cerebellar hypoplasia and progressive arthrogryposis on an antenatal sonogram. At delivery the infants exhibited a Pena-Shokier phenotype. At autopsy, the twins were concordant for severe disruptive lesions of the cerebrum. The mechanism resulting in the devastating symmetric lesions may have been a transient cerebral vascular compromise associated with placenta vascular anastomoses characteristic of monochorionic twinning. This report accentuates the vulnerability of the monochorionic twin for ischemic cerebral injury.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

J Am Acad Dermatol 1995 Aug;33(2 Pt 1):302-5
NLM CIT. ID: 95348303

Familial scleroderma-like deformity of the fingers.

Zvulunov A; Olson JC; Carpenter D; Esterly NB
Division of Dermatology,
Medical College of Wisconsin,
Milwaukee 53226, USA.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

J Vet Diagn Invest 1995 Apr;7(2):229-36
NLM CIT. ID: 95345183

Neuroaxonal degeneration in sheep grazing Sorghum pastures.

Bradley GA; Metcalf HC;
Reggiardo C; Noon TH;
Bicknell EJ; Lozano-Alarcon F;
Reed RE; Riggs MW

Department of Veterinary Science,
University of Arizona,
Tucson 85705, USA.

During the fall of 1992, 250 (10%) of 2,500 Rambouilet cross feeder lambs grazing Sorghum bicolor developed neurologic signs including weakness, ataxia, head shaking, knuckling of the fetlocks, inability to rise, and opisthotonos. One hundred fifteen (46%) of the affected lambs died. Twenty of the surviving lambs exhibited residual neurologic signs of ataxia when stressed. At the same time, 275 (25%) of 1,100 ewes grazing a nearby sudex pasture (S. sudanese x S. bicolor) gave birth to lambs that were weak and unable to rise. Newborn lambs exhibited extensor rigidity and opisthotonos when assisted to a standing position. The dystocias that occurred were due to lambs with contracted limbs (arthrogryposis). All affected lambs died or were euthanized. Histologic examination of the brains of 3 feeder lambs and 9 newborn lambs revealed similar microscopic lesions. The predominant change was the presence of focal axonal enlargements (spheroids) in the proximal segments of axons, which were restricted to the nuclei of the medulla, cerebellum, and midbrain. In addition, the spinal cord contained spheroids in the ventral horn gray matter of the 6 newborns examined. Ultrastructurally, the spheroids were composed of aggregates of neurofilaments, mitochondria, vesicular bodies, and dense bodies bounded by a thin myelin sheath. There was mild gliosis in the more severely affected animals of both groups. There was minimal Wallerian degeneration in the white matter adjacent to affected nuclei in the brain and the ventromedial and dorsolateral funiculi of the spinal cord. This is the first detailed report of Sorghum toxicity in sheep.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Pediatr Neurol 1995 Apr;12(3):237-41
NLM CIT. ID: 95344411

Arthrogryposis multiplex congenita due to congenital myasthenic syndrome.

Vajsar J; Sloane A; MacGregor DL; Ronen GM; Becker LE; Jay V
Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada.

Two children, now 5 1/2 and 6 years of age, presented as neonates with hypotonia, multiple joint contractures, ptosis, extraocular weakness, bulbar symptoms, and respiratory distress. Fluctuations and episodic exacerbations of weakness necessitated respiratory support. Both children are developmentally delayed and cannot walk independently, although one child underwent bilateral tenotomies. Biochemical investigations and electromyography, including slow-rate, repetitive nerve stimulation, were normal. Acetylcholine receptor antibodies in serum were absent. Single-fiber electromyography with axonal stimulation revealed prolonged mean jitter in the tibialis anterior and extensor digitorum muscles, with more than 2 abnormal individual jitter values in each muscle. Muscle biopsy demonstrated normal pattern and morphology of muscle fibers; immunohistochemical staining for cholinesterase was positive. Electron microscopy revealed abnormalities in motor endplates: atrophy, flattening of primary synaptic clefts, and paucity of side branches. These findings represent one of the postsynaptic abnormalities (i.e., acetylcholine receptor deficiency or paucity of synaptic folds). Both children improved clinically on pyridostigmine therapy. Arthrogryposis congenital multiplex due to congenital myasthenic syndrome, as diagnosed in our patients, has been reported once before. The diagnosis can be established by clinical history, neurologic examination, and electrophysiologic and pathologic findings. Clinical improvement can be achieved with high-dose anticholinesterase therapy.

Publication Types:

• Journal Article

Language:

• English

Registry Numbers:

• 0 (Receptors, Cholinergic)
• 101-26-8 (Pyridostigmine Bromide)

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Am J Hum Genet 1995 Jul;57(1):62-71
NLM CIT. ID: 95335683

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Chettouh Z; Croquette MF; Delobel B; Gilgenkrants S; Leonard C; Maunoury C; Prieur M; Rethore MO; Sinet PM; Chery M; et al

Centre National de la Recherche Scientifique, URA 1335,
Hopital Necker-Enfants Malades, Paris, France.

We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be assigned to the region flanked by genes APP and SOD1: six facial features, transverse palmar crease, arthrogryposis-like symptoms, hypertonia, and contribution to mental retardation. This region, covering the interface of bands 21q21-21q22.1, is 4.7-6.4 Mb long and contains the gene encoding the glutamate receptor subunit GluR5 (GRIK1).

Publication Types:

• Journal Article

Language:

• English

Gene Symbol:

• APP~ SOD1

Registry Numbers:

• EC 1.15.1.1 (Superoxide Dismutase)
• 0 (Amyloid beta-Protein Precursor)

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Orthopedics 1995 May;18(5):449-52
NLM CIT. ID: 95334421

Clubfoot deformity in Down's syndrome [published erratum appears in Orthopedics 1995 Jul;18(7):611]

Miller PR; Kuo KN; Lubicky JP
Shriners Hospital for Crippled Children, Chicago, Ill 60635, USA.

The association of Down's syndrome (trisomy 21) with clubfeet has not previously been elaborated. Eight patients with a total of 15 clubfeet were identified for review. Five of these had trisomy 21 noted by chromosomal analysis, and 1 had a mosaic pattern. Two patients did not have chromosomal documentation, but had characteristic features of Down's syndrome. Interestingly, 2 patients had evidence of arthrogryposis as well as Down's syndrome. Four of the 8 patients had other orthopedic anomalies, including scoliosis, atlantoaxial instability, brachydactyly, and coxa valga. All 8 patients had an initial period of casting prior to any surgical intervention. Fourteen of the 15 feet required surgical intervention to afford correction of the deformity. The 6 feet with relatively long-term follow up (average: 5 years) showed that there was 1 excellent, 4 good, and 1 fair result using the criteria of Turco. It appears that, even though Down's syndrome is usually characterized by ligamentous laxity, when clubfeet are associated with this syndrome they are often resistant to nonoperative treatment, and surgical treatment seems to produce an acceptable result.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Lancet 1995 Jul 1;346(8966):24-5
NLM CIT. ID: 95326731

Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen.

Vincent A; Newland C; Brueton L; Beeson D;
Riemersma S; Huson SM; Newsom-Davis J

Department of Clinical Neurology, Oxford Radcliffe Hospital,
University of Oxford, UK.

Fetal arthrogryposis multiplex congenita (AMC) is characterised by non-progressive multiple joint contractures, which may result in fetal death, and is heterogeneous in origin. It can associate with maternal myasthenia gravis and autoantibodies to muscle acetylcholine receptor (AChR). We found maternal antibodies that selectively inhibit the fetal form of the AChR in a mother who herself had no features of myasthenia gravis. Maternal autoantibodies specific for fetal antigens could be an unrecognised cause of other congenital disorders.

Publication Types:

• Journal Article

Language:

• English

Registry Numbers:

• 0 (Antigens)
• 0 (Autoantibodies)
• 0 (Receptors, Cholinergic)

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J Pediatr Orthop 1995 May-Jun;15(3):288-91
NLM CIT. ID: 95310485

Periarticular fractures after manipulation for knee contractures in children.

Simonian PT; Staheli LT

Department of Orthopaedic Surgery
Children's Hospital and Medical Center,
University of Washington, Seattle 98195, USA.

We report two cases, each of which sustained two separate periarticular fractures from overzealous manipulation for knee contracture. The four fractures reported in this study involve one normal child sustaining asynchronous ipsilateral distal femoral and proximal tibial fractures and a child with the diagnosis of amyoplasia sustaining bilateral proximal tibial fractures. The child with knee contracture must be treated carefully and not exposed to overzealous physiotherapy or manipulation. The child who has developed a joint contracture secondary to lengthy immobilization may be at increased risk for periarticular fracture secondary to disuse osteopenia. The knee joint is at particular risk because of the long lever arm of the leg. These concerns should be conveyed to anyone involved in the patient's care, including the parents, therapists, nurses, and physicians. Passive range of motion in the child should never be painful. Normal children often can obtain maximal range of motion if left alone and not restricted.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

AORN J 1995 Mar;61(3):492-506; quiz 508-12
NLM CIT. ID: 95297833

Congenital idiopathic clubfoot deformities.

Kyzer SP; Stark SL

Center for Case Management, South Natick, Mass., USA.

Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment.

Publication Types:

• Journal Article
• Historical Article
• Review
• Review, Tutorial

Language:

• English

[back to list] 

Neuropathol Appl Neurobiol 1995 Feb;21(1):61-7
NLM CIT. ID: 95287940

The familial syndrome of proliferative vasculopathy and hydranencephaly-hydrocephaly: immunocytochemical and ultrastructural evidence for endothelial proliferation.

Harding BN; Ramani P; Thurley P

Institute of Child Health, London, UK.

This is the fourth report of Fowler-type hydranencephaly, or proliferative vasculopathy and hydranencephaly-hydrocephaly (PVHH), and is both the first case in Europe and the first case reported in an Asian family. A 17-week fetus showed severe arthrogryposis, pterygia and muscular hypoplasia. Massive cystic dilatation of the cerebral ventricles with thin disorganized pallium was associated with calcifications and characteristic glomeruloid vasculopathy throughout the CNS. Hydranencephaly in a previous pregnancy was demonstrated ultrasonographically at 13 weeks gestation. The glomeruloid vasculopathy, unique to this disorder, has ill-defined vascular channels, prominent reticulin network and inclusion-bearing cells which our immunocytological and ultrastructural studies suggest are endothelial cells. Aetiopathogenesis remains uncertain; previous hypothesis include congenital infection or primary neuro-ectodermal failure. Our present clinical and morphological findings suggest a primary role for the glomeruloid vasculopathy at the time of vascular invasion of the cerebral mantle during the first trimester. Previous and present case data support autosomal recessive inheritance, in contradistinction to sporadic, encephaloclastic, hydranencephaly from which PVHH can be readily differentiated by microscopic examination.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Am J Med Genet 1995 Feb 13;55(4):414-9
NLM CIT. ID: 95282807

Dominant distal arthrogryposis in a Maori family with marked variability of expression.

Klemp P; Hall JG

Queen Elizabeth Hospital, Rotorua, New Zealand.

The index case was a Maori bushman who presented with severe congenital spinal stenosis and manifestations of distal arthrogryposis. His offspring and 8 of his 9 sibs and most of their offspring were interviewed and examined. Of those examined 7 individuals with definite and 2 with probable distal arthrogryposis were identified in 4 of the families. A tenth relative with distal arthrogryposis and contractural arachnodactyly had died. There was marked variability in the severity and nature of manifestations with 2 having severe hand and foot involvement in addition to craniofacial changes compatible with a diagnosis of Freeman-Sheldon syndrome. Other apparently unrelated hereditary disorders in the family included ectrodactyly, biliary atresia, and Brachmann-de Lange syndrome. This is the first report of arthrogryposis in a Maori family.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Clin Dysmorphol 1995 Jan;4(1):70-4
NLM CIT. ID: 95253459

A cognitively normal boy with meningoencephalocele, arthrogryposis and hypoplastic thumbs.

Podder S; Shepherd RC; Shillito P; Tolmie JL

Inverclyde Royal NHS Trust, Scotland, UK.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Am J Med Genet 1995 Jan 30;55(3):331-4
NLM CIT. ID: 95243295

Arthrogryposis multiplex congenita in an Arab kindred: update.

Jaber L; Weitz R; Bu X; Fischel-Ghodsian N; Rotter JI; Shohat M

Department of Medical Genetics, FMRC,
Beilinson Medical Center, Petah Tiqva Israel.

We have restudied the genetic and clinical characteristics of a large Arab kindred previously reported in 1970 by Lebenthal et al. [Pediatrics 46:891-899]. At total of 40 affected individuals was identified; all, except one, were products of 22 different consanguineous matings between the parents. The syndrome, which is present at birth, is expressed mainly by flexion contractures at the knees and elbows, with muscle hypotrophy/weakness around the involved joints. Five of the 6 individuals who were originally reported as having congenital and lethal heart defects were limited to one sibship. None of the new cases had heart defect or any associated malformation. Neurologic examination and electrophysiological studies demonstrated a neuropathic (non-myopathic) type of arthrogryposis. This is an autosomal recessive trait with wide variability in expression and possibly incomplete penetrance in the females. Because of the high consanguinity rate, it allows the use of homozygosity linkage studies to map the gene for this disorder.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Neuromuscul Disord 1995 Jan;5(1):59-65
NLM CIT. ID: 95235329

Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother.

Barnes PR; Kanabar DJ; Brueton L; Newsom-Davis J;
Huson SM; Mann NP; Hilton-Jones D

University Department of Clinical Neurology,
Radcliffe Infirmary, Oxford, U.K.

We report a sibship in which the syndrome of congenital arthrogryposis occurred in two male and two female neonates, three of whom died. The mother was asymptomatic at the time of the first pregnancy and the subsequent development of muscle weakness was later confirmed to be due to myasthenia gravis. The literature on this association is briefly reviewed and the extremely high risk of recurrence of this complication in subsequent pregnancies is addressed.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

J Med Genet 1995 Jan;32(1):36-8
NLM CIT. ID: 95205374

Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.

Vuopala K; Makela-Bengs P; Suomalainen A; Herva R; Leisti J; Peltonen L

Department of Pathology, University of Oulu, Finland.

The lethal congenital contracture syndrome (LCCS) is an autosomal recessive syndrome (McKusick 253310) leading to perinatal death owing to early onset degeneration of the anterior horn motor neurones of the spinal cord. The neuropathological findings in the LCCS closely resemble those of spinal muscular atrophy (SMA). Since all the three types of SMA have been localised to the same gene locus on the long arm of chromosome 5, we analysed samples from seven families with 10 LCCS fetuses with the microsatellite markers assigned to the SMA 5q region. Linkage analyses between the SMA linked DNA markers and the disease allele in the LCCS families excluded the critical chromosomal region around the SMA locus as the critical chromosomal region for the LCCS locus.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Hum Pathol 1995 Jan;26(1):12-9
NLM CIT. ID: 95122062

Lethal arthrogryposis with anterior horn cell disease.

Vuopala K; Ignatius J; Herva R

Department of Pathology, University of Oulu, Finland.

Fifteen infants (11 families) with lethal arthrogryposis and anterior horn motor neuron loss are described. The clinical presentation was the fetal akinesia deformation sequence (FADS) with multiple contractures and facial anomalies. At autopsy neurogenic muscular atrophy was present in all infants. The spinal cord showed a paucity of anterior horn motor neurons in the 12 infants studied. Both male and female infants were affected. Nine cases were sporadic, whereas in two families there were three affected cases. Consanguinity between the parents was reported in one family with one affected child. This and the recurrence of the condition speak for autosomal recessive inheritance. Detailed neuropathological examination and documentation of the clinical features are needed for a better delineation of and genetic counseling for perinatally lethal arthrogryposis.

Publication Types:

• Journal Article

Language:

• English

[back to list] 

Neuropediatrics 1994 Dec;25(6):308-15
NLM CIT. ID: 95287946

Lethal arthrogryposis in Finland--a clinico-pathological study of 83 cases during thirteen years.

Vuopala K; Leisti J; Herva R

Department of Pathology, University of Oulu, Finland.

Eighty-three cases of multiple congenital joint contractures, i.e., arthrogryposis, which were related with either a stillborn fetus, a termination of pregnancy following prenatal diagnosis or death within 28 days postnatally, were studied. Sixty-seven cases were neurogenic in origin, including forty-one with the lethal congenital contracture syndrome (LCCS, McKusick 253310), fifteen with milder anterior horn cell involvement, and ten with dysgenesis and degeneration of the CNS. Congenital muscular dystrophy was seen in two cases and nemaline myopathy in one case. A non-neuromuscular basis was established in ten cases, and the cause remained obscure in three cases. Apart from the autosomal recessive LCCS, the fifteen cases with anterior horn cell involvement made up a uniform clinico-pathological entity. In two families this disease recurred twice, and autosomal recessive inheritance is therefore likely. Recurrence was also seen twice in a family with central nervous system degeneration and in another with the oligohydramnios sequence. There are apparently several recessively inherited entities among the arthrogryposis phenotype. A careful clinical study and a neuropathological examination are essential for estimating the recurrence risk.

Publication Types:

• Journal Article
• Review
• Review of Reported Cases

Language:

• English

[back to list] 

Vet Clin North Am Food Anim Pract 1994 Nov;10(3):525-46
NLM CIT. ID: 95245901

Akabane virus.

Charles JA

Veterinary Pathology Services Pty Ltd, Sydney, Australia.

Akabane virus, an arthropod-borne Bunyavirus, is the major cause of epizootics of congenital malformations in ruminants in Australia, Japan, Korea, and Israel, and is suspected to be a cause of sporadic outbreaks elsewhere. Blood-sucking insects, such as biting midges, transmit the virus horizontally to vertebrates. Climatic factors influence the seasonal activity and geographic range of the vector population and, therefore, occurrence of related disease. Inoculated ruminants seroconvert rapidly after a short subclinical viremia. Infection is of consequence only if ruminants are pregnant and not protected by adequate specific neutralizing antibodies. In naive pregnant animals, virus may spread hematogenously to replicate and persist in trophoblastic cells of placental cotyledons and subsequently invade the fetus. A distinct tropism for immature rapidly
dividing cells of the fetal central nervous system and skeletal muscle results in direct virus-induced necrotizing encephalomyelitis and polymyositis. If fetuses survive, such injury may manifest as arthrogryposis, hydranencephaly, porencephaly, microencephaly, hydrocephalus, or encephalomyelitis at term. The earlier in gestation that fetal infection occurs, the more severe the lesions, reflecting the large population of
vulnerable cells and lack of fetal immunocompetency at earlier stages of pregnancy. Injury during the period of critical cell migration and differentiation in organogenesis may substantially disrupt structural development in target organs. Late gestational infections cause nonsuppurative inflammation in the brain and spinal cord, premature birth, or fetal death with stillbirth or abortion. Affected neonates are nonviable. Control is by vaccination but is not always justified economically. Akabane viral infections must be differentiated from infections with other teratogenic viruses (including related Bunyaviruses), inherited conditions, and maternal intoxications. Diagnosis is made by serology and viral isolation.

Publication Types:

• Journal Article
• Review
• Review, Tutorial

Language:

• English

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Brain Dev 1994 Nov-Dec;16(6):463-6
NLM CIT. ID: 95209015

The association of cortical dysplasia and anterior horn arthrogryposis: a case report.

Hageman G; Hoogenraad TU; Prevo RL

Department of Neurology, Medical Spectrum Twente,
Enschede, The Netherlands.

We describe a 21-year-old woman with neurogenic congenital contractures (arthrogryposis) of the lower limbs, normal intelligence, hyper-reflexia and partial epilepsy. MRI revealed bilateral opercular (perisylvian) cortical dysplasia with infolding of cerebral cortex, a focal neuroblast migrational disorder. This type of migrational disorder is known to have a prenatal onset after the 20th fetal week, whereas the anterior horn cell degeneration responsible of neurogenic arthrogryposis originates at 12-14 weeks of gestation. A prenatal viral infection along the neural axis during both these gestational periods or a genetic defect could be responsible for both lesions in this case.

Publication Types:

• Journal Article

Language:

• English

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J Comp Pathol 1994 Nov;111(4):427-37
NLM CIT. ID: 95190123

A congenital abnormality of calves, suggestive of a new type of arthropod-borne virus infection.

Kitano Y; Yamashita S; Makinoda K

Kagoshima Chuou Livestock Hygiene Service Center, Japan.

About 1000 calves with a congenital disease were born in Kagoshima prefecture, Japan, between October 1990 and October 1991, the peaks of the epidemic being in March and July 1991. Of 85 abnormal calves examined pathologically and serologically, 70 appeared to have been suffering from a viral disease. Of these 70 animals, 17 had lesions bearing some resemblance to those of the diseases produced by Akabane, Chuzan, Aino, bluetongue and bovine viral diarrhoea-mucosal disease viruses-diseases known to occur in Kagoshima-but serum samples contained no antibodies to these viruses or to infectious bovine rhinotracheitis virus. This suggested the occurrence of a new type of viral infection in southern Japan. Six of the 17 calves were born dead and the others manifested clinical signs such as weakness, difficulty in sucking, inability to stand, vertigo, opisthotonus, staggering and weak eyesight or blindness. They were of small size and showed domed head, scoliosis, arthrogryposis, maxillary retraction, sunken eye, cataracts, and irregularities and defects of the teeth. At necropsy, almost all cases showed hydranencephaly, and many had cerebral defects and cerebellar hypoplasia or agenesis. Both cerebral and cerebellar lesions were seen in six cases, two of which showed a hypoplastic defect of the brain stem. Histopathological examination of the affected organs revealed gliosis, loss of cerebral parenchyma resulting from dilation of the ventricles, perivascular cuffing with round cells such as lymphocytes and plasma cells, proliferation of blood vessels, thick-walled blood vessels in the brain stem, dilation of mesencephalic aqueducts, cerebellar cortical dysplasia, decreased nerve cells in the ventral horn of the spinal cord, and myodys lasia of skeletal muscle.

Publication Types:

• Journal Article

Language:

• English

Registry Numbers:

• 0 (Antibodies, Viral)

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Acta Neurol Scand 1994 Oct;90(4):232-40
NLM CIT. ID: 95141765

Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome? [see comments]

Brodtkorb E; Torbergsen T; Nakken KO; Andersen K; Gimse R; Sjaastad O

Department of Neurology, Trondheim University Hospitals, Norway.

COMMENT:
Acta Neurol Scand 1995 Jun;91(6):518-9

INTRODUCTION--Arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. MATERIAL AND METHODS--Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. RESULTS--Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients with demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. CONCLUSION--We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.

Publication Types:

• Journal Article

Language:

• English

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