Medline Abstracts, Arthrogryposis, 1997-1998

Clin Genet 1998 Sep;54(3):224-30

Severe mental retardation-distal arthrogryposis in the upper limbs and complex chromosomal rearrangements resulting from a 10q25-->qter deletion.

Lukusa T, Devriendt K, Holvoet M, Fryns JP

Center for Human Genetics, University Hospital of Leuven, Belgium.

We present the first report of chromosomal rearrangement involving chromosomes 4, 10 and 12. The proband was a 42-year-old woman with severe mental retardation and multiple congenital anomalies. The most striking physical anomalies were upper limb contractures resulting in distal arthrogryposis. As upper limb flexion contractures have been previously reported in individuals with partial distal 10q deletion, this sign should be considered as part of the clinical manifestations of 10q25-->qter monosomy.

PMID: 9788726, UI: 99002775

[back to list]


Fetal Diagn Ther 1998 Jul;13(4):244-249

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis. a case report and review.

Vardon D, Chau C, Sigodi S, Figarella-Branger D, Boubli L

Pavillon mere-enfant, Hopital Nord, Marseille, France.

[Record supplied by publisher]

A new lethal case of nemaline myopathy is reported. The diagnosis was made by postmortem muscle biopsy. The child died before his first day of life. This is one of the very rare cases of nemaline myopathy with severe antenatal ultrasonographic signs: fetal hydrops and arthrogryposis. In a review of the literature other cases of the congenital rapidly fatal form are found, some of them with clinical decrease of fetal movements but only few authors report ultrasonographic signs. The diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder are analyzed. This congenital nonprogressive myopathy is not as benign as previously thought and may be an etiology of the lethal form of arthrogryposis multiplex congenita. The existence of ultrasonographic antenatal signs seems to be a factor of poor prognosis. In spite of recent genetic discoveries, there is at present no specific antenatal diagnosis. Consequently, muscle biopsy in lethal cases is very important to allow a genetic counselling; however, in utero fetal biopsy has never been performed in such cases.

PMID: 9784647

[back to list]


Eur J Hum Genet 1998 Jul-Aug;6(4):376-82

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H

Department of Neurology, University Hospital, Nijmegen, The Netherlands.

[Medline record in process]

Spinal muscular atrophies are a heterogeneous group of disorders. They differ in time of onset, clinical presentation, progression, severity and mode of inheritance. In 1985 a Dutch family was described with a dominant, non-progressive spinal muscular atrophy presenting at birth with arthrogryposis (MIM 600175). Linkage analysis was performed in this family. After having excluded the loci for Werding-Hoffmann's disease and for dominant distal spinal muscular atrophy with upper limb predominance, we were able to localise the gene to a 10 cM interval between the markers D12S78 and D12S1646 on chromosome 12q23-q24. Recently, dominant scapuloperoneal spinal muscular atrophy has been localised to an overlapping interval. However, the clinical appearances of scapuloperoneal spinal muscular atrophy and the present disorder make allelism unlikely. In 1994, a second Dutch family with a disorder similar to the present one was described. We excluded linkage to markers of the 12q23-q24 region in this family and thereby proved genetic heterogeneity of this type of dominant, congenital and nonprogressive spinal muscular atrophy.

PMID: 9781046, UI: 98454331

[back to list]


Neurology 1998 Sep;51(3):878-9

Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease.

Jong YJ, Chang JG, Wu JR

Department of Pediatrics, Kaohsiung Medical College, Taiwan.

A Chinese male infant with arthrogryposis multiplex congenita (AMC), ventricular and atrial septal defects, and Werdnig-Hoffmann disease (WHD) had deletions of the telomeric copy of the survival motor neuron (SMN(T)) and neuronal apoptosis inhibitory protein genes. Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN(T) deletion. This rare association further illustrates the variable phenotypic expressions of WHD.

MeSH Terms:

  • Arthrogryposis/genetics
  • Arthrogryposis/complications
  • Case Report
  • Gene Deletion
  • Heart Septal Defects, Atrial/genetics
  • Heart Septal Defects, Atrial/complications
  • Heart Septal Defects, Ventricular/genetics
  • Heart Septal Defects, Ventricular/complications
  • Human
  • Infant, Newborn
  • Male
  • Nerve Tissue Proteins/genetics*
  • Support, Non-U.S. Gov't
  • Werdnig-Hoffmann Disease/genetics*
  • Werdnig-Hoffmann Disease/complications

Substances:

  • SMN protein (spinal muscular atrophy)
  • Nerve Tissue Proteins
  • neuronal apoptosis inhibitory protein

PMID: 9748047, UI: 98418843

[back to list]


Biol Neonate 1998 Nov;74(5):345-50

Improved oxygenation following adenosine infusion in persistent pulmonary hypertension of the newborn.

Patole S, Lee J, Buettner P, Whitehall J

Department of Neonatology (NICU), Kirwan Hospital for Women, Thuringowa, Qld, Australia.

[Medline record in process]

Six consecutive cases of persistent pulmonary hypertension of the newborn (PPHN) were treated with adenosine following failure of conventional therapy, excluding inhaled nitric oxide. A rise in arterial PO2 >20 mm Hg occurred in 5 of 6 cases within 30 min of commencing adenosine infusion. Individual maximal increases in PaO2 ranged from 31 to 131 mm Hg. Three neonates survived and 3 died. Amongst deaths, intensive support was withdrawn in a preterm neonate due to severe arthrogryposis/pulmonary hypoplasia. Of the remaining 2, the improvement in oxygenation persisted until death occurred from causes unrelated to adenosine. Side effects related to adenosine (bradycardia, hypotension, prolonged bleeding time) did not occur. Due to its ease of availability, administration and extremely short half-life, adenosine may be an important therapeutic option in PPHN.

PMID: 9742263, UI: 98416132

[back to list]


Clin Genet 1998 Jul;54(1):86-9

Marden-Walker syndrome versus isolated distal arthrogryposis: evidence that both conditions may be variable manifestations of the same mutated gene.

Fryns JP, Willekens D, Van Schoubroeck D, Moerman P

Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

[Medline record in process]

In this report we present evidence that Marden-Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity. We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non-consanguineous parents. The first child, a female, presented a typical Marden-Walker syndrome with Dandy Walker type CNS malformation, corpus callosum hypoplasia and enlarged ventricles. In the second pregnancy, echographic examination revealed joint contractures of the hands and feet. Fetopathological examination revealed a normocephalic male fetus with severe distal arthrogryposis. There was no facial dysmorphism and pathological examination of the brain, the spinal cord and muscle was normal.

PMID: 9727748, UI: 98394731

[back to list]


Am J Med Genet 1998 Aug 6;78(5):450-4

Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome.

Zori RT, Gardner JL, Zhang J, Mullan MJ, Shah R, Osborn AR, Houlden H, Wallace MR, Roberts S, Yang TP

Department of Pediatrics, College of Medicine, University of Florida, Gainesville 32610, USA.

[Medline record in process]

Arthrogryposis is a heterogeneous birth defect characterized by limitation of movement at multiple joints. One in 3,000 infants is born with arthrogryposis, and at least a third of these cases have a genetic cause. Four distinct types of X-linked arthrogryposis have been reported, and a severe lethal form recently was mapped to Xpll.3-qll.2. We now report an extended family affected with a novel variant of X-linked arthrogryposis that involves only the lower limbs. Linkage analysis with polymorphic DNA markers maps the disease locus in this unique family to the long arm of the human X chromosome between DXS1220 and DXS1205 in Xq23-27.

PMID: 9714012, UI: 98377814

[back to list]


J Bone Joint Surg Br 1998 Jul;80(4):636-40

Surgical management of hip dislocation in children with arthrogryposis multiplex congenita.

Akazawa H, Oda K, Mitani S, Yoshitaka T, Asaumi K, Inoue H

Okayama University, Okayama City, Japan.

Arthrogryposis multiplex congenita (AMC) is a rare disease with multiple joint contractures. It is widely believed that bilaterally dislocated hips should not be reduced since movement is satisfactory and open reduction has had poor results. Since 1977 we have performed a new method of open reduction using an extensive anterolateral approach on ten hips in five children with AMC. The mean age at surgery was 31.5 months (17 to 64) and the mean follow-up was 11.8 years (3.8 to 19.5). At the final follow-up all children walked without crutches or canes. Two managed independently, one required a long leg brace and two had short leg braces because of knee and/or foot problems. The clinical results were good in eight hips and fair in two and on the Severin classification seven hips were rated as good (group I or group II). We recommend the extensive anterolateral approach for unilateral or bilateral dislocation of the hip in children with arthrogryposis or developmental dislocation of the hip.

MeSH Terms:

  • Acetabulum/surgery
  • Arthrogryposis/complications*
  • Braces
  • Child, Preschool
  • Crutches
  • Fascia/surgery
  • Female
  • Femur/surgery
  • Follow-Up Studies
  • Foot/physiopathology
  • Hip Dislocation/surgery
  • Hip Dislocation, Congenital/surgery*
  • Hip Joint/surgery
  • Human
  • Infant
  • Joint Capsule/surgery
  • Knee Joint/physiopathology
  • Ligaments, Articular/surgery
  • Male
  • Muscle, Skeletal/surgery
  • Osteotomy/methods
  • Range of Motion, Articular/physiology
  • Rotation
  • Tendons, Para-Articular/surgery
  • Treatment Outcome
  • Walking/physiology

PMID: 9699827, UI: 98363407

[back to list]


Clin Dysmorphol 1998 Jul;7(3):205-8

Distal arthrogryposis, ectodermal dysplasia and dilated cardiomyopathy--a new syndrome?

Parker MJ, Groggins RC, Rees PG, Young ID

Department of Clinical Genetics, City Hospital, Nottingham, UK.

The clinical features in a 10-year-old girl with distal arthrogryposis, ectodermal dysplasia and a dilated cardiomyopathy are presented. Review of the relevant literature has not revealed any other similar report. Parental consanguinity points to autosomal recessive inheritance.

MeSH Terms:

  • Arthrogryposis*
  • Cardiomyopathy, Congestive*
  • Case Report
  • Child
  • Ectodermal Dysplasia*
  • Fatal Outcome
  • Female
  • Human
  • Infant, Newborn
  • Syndrome

PMID: 9689995, UI: 98354449

[back to list]


J Nat Toxins 1998 Jun;7(2):131-40

Teratogenic and fetotoxic effects of two piperidine alkaloid-containing lupines (L. formosus and L. arbustus) in cows.

Panter KE, Gardner DR, Molyneux RJ

USDA-ARS, Poisonous Plant Research Lab, Logan, UT 84341, USA. kpanter@cc.usu.edu

Cleft palate and minor front limb contractures were induced in calves by maternal ingestion of the piperidine alkaloid-containing lupines, Lupinus formosus and L. arbustus. Crooked calf disease, which includes an occasional cleft palate, is a congenital condition of widespread occurrence in cattle in the western U.S. and Canada. It is known to occur after maternal ingestion of certain species of Lupinus during specific gestational periods. Although many lupine species contain quinolizidine alkaloids including the teratogenic alkaloid anagyrine, L. formosus and L. arbustus produce piperidine alkaloids including the reported teratogen ammodendrine. In addition to ammodendrine, L. formosus contains both N-acetyl hystrine and N-methyl ammodendrine, whereas L. arbustus contains ammodendrine, trace amounts of N-methyl ammodendrine, and no N-acetyl hystrine. L. formosus and L. arbustus were fed to pregnant cows at equivalent ammodendrine doses during a 10-day period from days 40-50 of gestation. One calf from a cow fed L. formosus had a full cleft palate. Embryonic death and resorption of one fetus and minor front limb contractures (arthrogryposis) in another calf occurred with two cows fed L. arbustus. Alkaloid analysis of blood samples taken during the feeding period, and up to and including 48 hours after the last dose, demonstrated comparative plasma elimination times with N-methyl ammodendrine > ammodendrine > N-acetyl hystrine. The objectives of this experiment were to: 1) determine if N-acetyl hystrine is a potential teratogen; and 2) define the narrow cleft palate induction period in cows.

MeSH Terms:

  • Alkaloids/blood
  • Animal
  • Animal Feed/toxicity
  • Arthrogryposis/veterinary*
  • California
  • Cattle
  • Cattle Diseases/chemically induced*
  • Cattle Diseases/blood
  • Cleft Palate/veterinary*
  • Dihydropyridines/toxicity*
  • Dihydropyridines/analysis
  • Female
  • Fetal Death/veterinary*
  • Gestational Age
  • Idaho
  • Piperidines/toxicity*
  • Piperidines/analysis
  • Plants, Toxic/chemistry*
  • Pregnancy
  • Prenatal Exposure Delayed Effects*
  • Pyridines/toxicity*
  • Pyridines/analysis
  • Structure-Activity Relationship
  • Teratogens/toxicity*
  • Teratogens/analysis*

Substances:

  • ammodendrine
  • Teratogens
  • Pyridines
  • Piperidines
  • N-methylammodendrine
  • N-acetylhystrine
  • Dihydropyridines
  • Alkaloids

PMID: 9678187, UI: 98343158

[back to list]


Ann N Y Acad Sci 1998 May 13;841:565-7

An animal model of maternal antibody-mediated arthrogryposis multiplex congenita (AMC).

Jacobson L, Polizzi A, Vincent A

Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, United Kingdom.

MeSH Terms:

  • Animal
  • Arthrogryposis/immunology*
  • Arthrogryposis/genetics
  • Arthrogryposis/blood
  • Autoantibodies/metabolism
  • Autoantibodies/administration & dosage*
  • Case Report
  • Disease Models, Animal
  • Female
  • Human
  • IgG/metabolism
  • IgG/administration & dosage*
  • Immunization, Passive
  • Male
  • Maternal-Fetal Exchange
  • Mice
  • Pregnancy
  • Receptors, Cholinergic/immunology*
  • Support, Non-U.S. Gov't

Substances:

  • Receptors, Cholinergic
  • IgG
  • Autoantibodies

PMID: 9668296, UI: 98332893

[back to list]


Ann N Y Acad Sci 1998 May 13;841:482-96

Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita.

Vincent A, Jacobson L, Plested P, Polizzi A, Tang T, Riemersma S, Newland C, Ghorazian S, Farrar J, MacLennan C, Willcox N, Beeson D, Newsom-Davis J

Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Headington, United Kingdom.

A new autoimmune disease affecting the neuromuscular junction has been defined. Acquired neuromyotonia is associated with antibodies to voltage-gated potassium channels that act, at least in part, by reducing potassium channel function with resulting neuronal hyperactivity. This condition is quite frequently associated with thymoma and, in many cases, antibodies to acetylcholine receptors are present as well as antibodies to VGKC. Improvements in techniques and the availability of cloned DNA and recombinant forms of the AChR subunits have led to new observations concerning the specificity and roles of antibodies in myasthenia gravis. The transfection of a cell line with the epsilon subunit means that we can now accurately compare antibodies reactive with adult and fetal human AChR. This may help to determine the relationship between AChR subunit expression in different tissues and the induction of antibodies that bind specifically to the two forms, as well as to clarify the role of antibodies to fetal or adult AChR in causing ocular muscle symptoms. Serum antibodies from a few mothers with obstetric histories of recurrent arthrogryposis multiplex congenita in their babies specifically inhibit the function of fetal AChR. These observations not only explain the cause of some cases of arthrogryposis multiplex congenita, but also suggest that other fetal-specific antibodies might be responsible for other fetal or neonatal conditions. An animal model has been established to enable us to investigate the role of maternal serum factors in causing such disorders. Seronegative MG has been the subject of many studies from our laboratory over the last ten years. The transience of the effects of SNMG plasmas on AChR function strongly suggests that the plasma antibodies do not bind directly to the AChR, but inhibit function by some indirect mechanism. They do not appear to act via the cAMP-dependent protein kinase pathway, and studies are in progress to investigate the involvement of other second messenger systems.

Publication Types:

  • Review
  • Review, tutorial

MeSH Terms:

  • Adult
  • Arthrogryposis/immunology*
  • Autoantibodies/blood*
  • Autoimmune Diseases/immunology*
  • Child
  • Fasciculation/immunology
  • Human
  • Myasthenia Gravis/immunology*
  • Myotonia/immunology
  • Neuromuscular Diseases/immunology*
  • Peripheral Nervous System Diseases/immunology
  • Potassium Channels/immunology
  • Receptors, Cholinergic/immunology
  • Thymoma/immunology
  • Thymus Neoplasms/immunology

Substances:

  • Receptors, Cholinergic
  • Potassium Channels
  • Autoantibodies

PMID: 9668280, UI: 98332877

[back to list]


Anaesthesia 1998 May;53 Suppl 2:78-80

Anaesthesia in handicapped children.

Redl G

Orthopadisches Hospital Speising, Vienna, Austria.

Publication Types:

  • Review
  • Review, tutorial

MeSH Terms:

  • Anesthesia/methods*
  • Arthrogryposis
  • Central Nervous System Diseases*
  • Child
  • Human
  • Osteochondrodysplasias*

PMID: 9659080, UI: 98323216

[back to list]


Magn Reson Imaging Clin N Am 1998 Aug;6(3):677-95

Disorders of the upper extremity in children.

Azouz EM, Oudjhane K

Department of Radiology, Shriners Hospital for Children, Montreal, Quebec, Canada.

This article presents a brief overview of the indications of MR imaging in a variety of disorders of the upper extremity of the pediatric patient. This covers congenital anomalies: Sprengel shoulder, Poland sequence, arthrogryposis; posttraumatic lesions of cartilage, bone, tendon, muscle and nerve including the brachial plexus injury; inflammatory arthritis and synovitis; bone and joint infection; osteochondritis dissecans, bone necrosis and infarcts in sickle cell anemia and juvenile Gaucher disease, as well as tumors. In this last category, the authors briefly describe the appearances of cysts and tumors of bones and soft tissues of the upper extremity. Indications for the intravenous administration of Gadolinium are given throughout the article with emphasis on the synovial enhancement seen in active arthritis and synovitis.

Publication Types:

  • Review
  • Review, tutorial

MeSH Terms:

  • Adolescence
  • Anemia, Sickle Cell/complications
  • Arm/pathology*
  • Arm/innervation
  • Arm/abnormalities
  • Arm Injuries/diagnosis
  • Arthritis/diagnosis
  • Arthrogryposis/diagnosis
  • Bone Diseases/diagnosis
  • Bone Neoplasms/diagnosis
  • Bones of Upper Extremity/pathology*
  • Bones of Upper Extremity/injuries
  • Bones of Upper Extremity/blood supply
  • Bones of Upper Extremity/abnormalities
  • Brachial Plexus/injuries
  • Cartilage/injuries
  • Child
  • Female
  • Gaucher's Disease/diagnosis
  • Human
  • Infant
  • Infarction/diagnosis
  • Magnetic Resonance Imaging*
  • Male
  • Muscle, Skeletal/injuries
  • Osteochondritis Dissecans/diagnosis
  • Osteonecrosis/diagnosis
  • Poland Syndrome/diagnosis
  • Shoulder/abnormalities
  • Soft Tissue Neoplasms/diagnosis
  • Synovitis/diagnosis
  • Tendon Injuries/diagnosis

PMID: 9654591, UI: 98319963

[back to list]


Magn Reson Imaging Clin N Am 1998 Aug;6(3):497-519

Congenital anomalies and vascular birthmarks of the lower extremities.

Laor T, Burrows PE

Department of Radiology, Harvard Medical School, Children's Hospital, Boston, Massachusetts, USA.

MR imaging is an invaluable tool for the evaluation of congenital abnormalities and vascular birthmarks of the extremities in children. These abnormalities of the immature musculoskeletal system are often underestimated by radiography. MR imaging is useful for diagnosis, assisting in therapy, showing response to treatment, and determining prognosis. Localized and generalized abnormalities of the lower extremities and issues pertinent to their MR imaging are illustrated in this article.

Publication Types:

  • Review
  • Review, tutorial

MeSH Terms:

  • Adolescence
  • Amniotic Band Syndrome/diagnosis
  • Arthrogryposis/diagnosis
  • Blood Vessels/abnormalities
  • Child
  • Child, Preschool
  • Evaluation Studies
  • Female
  • Femur/abnormalities
  • Fibula/abnormalities
  • Human
  • Infant
  • Infant, Newborn
  • Leg Bones/radiography
  • Leg Bones/abnormalities*
  • Leg Dermatoses/radiography
  • Leg Dermatoses/diagnosis*
  • Leg Dermatoses/congenital
  • Magnetic Resonance Imaging*
  • Male
  • Neurofibromatosis/diagnosis
  • Skin Diseases, Vascular/radiography
  • Skin Diseases, Vascular/diagnosis*
  • Skin Diseases, Vascular/congenital
  • Skin Neoplasms/diagnosis
  • Skin Neoplasms/congenital
  • Tibia/abnormalities

PMID: 9654582, UI: 98319954

[back to list]


Ter Arkh 1998;70(5):62-4

Outpatient care of young invalids with locomotor defects.
[Article in Russian]

Pereponov IuP, Taktarov EK, Pereponova EK,
Ferkovich VV, Lil'in ET

AIM: The study of somatic health in patients with locomotor defects (infantile cerebral paralysis, meningoencephalocele, myodystrophy) to reveal abnormalities in function of the principal systems and organs of these patients. MATERIALS AND METHODS: The examination covered 93 students of Moscow institute for invalids suffering from locomotor defects (mean age 18.2 +/- 0.1 years). Clinical, laboratory, instrumental tests, ultrasound investigation of the viscera and heart, gynecological functional tests were made. RESULTS: Defects were found almost in all the essential systems of the body in the majority of the invalids. The changes revealed were both functional and organic. Relevant correction was needed. Affection of the somatic organs impaired adaptation, resulted in still worse conditions for learning. Attendant somatic diseases aggravated the underlying disease. CONCLUSION: Visceral affections in patients with locomotor defects aggravate the underlying disease and provoke more severe disability. Poor rehabilitation results lead to defective social adaptation. The authors propose introduction of special therapeutic programs for primary and secondary prophylaxis of somatic lesions in invalids with locomotor affections. Further study of somatic status of invalids is thought valid.

MeSH Terms:

  • Adaptation, Physiological
  • Adolescence
  • Adult
  • Ambulatory Care/methods*
  • Arthrogryposis/rehabilitation*
  • Cerebral Palsy/rehabilitation*
  • * Disabled Persons*
  • English Abstract
  • Female
  • Human
  • Locomotion
  • Male
  • Meningomyelocele/rehabilitation*

PMID: 9644747, UI: 98308617

[back to list]


Can J Surg 1998 Jun;41(3):245-7

Total joint replacement in multiplex congenita contractures: a case report.

Cameron HU

Department of Surgery, University of Toronto, Ont.

A 34-year-old man with multiplex congenita contractures underwent replacement of 2 hips and 1 knee. Even though a good range of movement was achieved at surgery and intensive physiotherapy, his joints returned to their preoperative status within 2 years. This outcome suggests that total joint replacement has little to offer the patient with multiplex congenita contractures who has immobile joints.

MeSH Terms:

  • Adult
  • Arthrogryposis/surgery*
  • Arthrogryposis/radiography
  • Arthrogryposis/physiopathology
  • Arthroplasty, Replacement, Hip*
  • Arthroplasty, Replacement, Knee*
  • Case Report
  • Hip Joint/radiography
  • Hip Joint/physiopathology
  • Hip Prosthesis
  • Human
  • Knee Joint/radiography
  • Knee Joint/physiopathology
  • Knee Prosthesis
  • Male
  • Range of Motion, Articular/physiology
  • Recurrence
  • Treatment Failure

PMID: 9627553, UI: 98291023

[back to list]


Lancet 1998 May 30;351(9116):1624-7

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy.

Gonzalez CH, Marques-Dias MJ, Kim CA, Sugayama SM, Da Paz JA, Huson SM, Holmes LB

Instituto da Crianca Faculty of Medicine, University of Sao Paulo, Brazil.

BACKGROUND: Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However, misoprostol is not very effective in inducing abortions, and exposure to the drug in utero can cause abnormalities in the fetus. We aimed to define the common phenotypical effects of exposure to the drug. METHODS: We studied 42 infants from Sao Paulo, Brazil, who were exposed to misoprostol during the first 3 months of gestation, and then born with congenital abnormalities. We interviewed each of the infants' mothers to find out about misoprostol exposure and dosage. Each infant was physically examined by a geneticist or a neuropaediatrician. FINDINGS: 17 of the infants had equinovarus with cranial-nerve defects. Ten children had equinovarus as part of more extensive arthrogryposis. The most distinctive phenotypes were arthrogryposis confined to the legs (five cases) and terminal transverse-limb defects (nine cases) with or without Mobius sequence. The most common dose of misoprostol taken was 800 microg (range 200-16000 microg). INTERPRETATION: Deformities attributed to vascular disruption were found in these children. We suggest that the uterine contractions induced by misoprostol cause vascular disruption in the fetus, including brain-stem ischaemia. Information on the effects of taking misoprostol during pregnancy should be made more widely available, to dissuade women from misusing the drug.

Comments:

  • Comment in: Lancet 1998 Jul 25;352(9124):323

MeSH Terms:

  • Abnormalities, Drug-Induced/etiology
  • Abnormalities, Drug-Induced/epidemiology*
  • Abortifacient Agents, Nonsteroidal/adverse effects*
  • Abortifacient Agents, Nonsteroidal/administration & dosage
  • Abortion, Criminal*/statistics & numerical data
  • Arthrogryposis/chemically induced*
  • Brazil/epidemiology
  • Clubfoot/chemically induced*
  • Cranial Nerves/abnormalities*
  • Female
  • Human
  • Infant, Newborn
  • Male
  • Misoprostol/adverse effects*
  • Misoprostol/administration & dosage
  • Pregnancy
  • Self Administration
  • Support, Non-U.S. Gov't
  • Support, U.S. Gov't, P.H.S.

Substances:

  • Misoprostol
  • Abortifacient Agents, Nonsteroidal

Grant support:

  • ROI HD 33222/HD/NICHD

PMID: 9620717, UI: 98282039

[back to list]


Eur J Pediatr Surg 1998 Apr;8(2):75-80

Modified Toupet wrap for gastroesophageal reflux in childhood.

Mayr J, Sauer H, Huber A, Pilhatsch A, Ratschek M

Department of Pediatric Surgery, University of Graz, Austria.

It was the aim of our study to follow up our clientele of infants and children who had undergone a partial (posterior) Toupet wrap or modified Toupet wrap. METHODS: All 22 children who had undergone a posterior partial wrap within a 4-year period were followed up for 4.0 years (0.6-5.7 years). 36.4% of children had associated anomalies such as operated esophageal atresia, operated congenital diaphragmatic hernia, Gregg's syndrome or arthrogryposis multiplex congenita. 14% of children suffered from some form of neurological impairment. Prior to operation the 4 main examinations for detection and documentation of gastroesophageal reflux (GER) disease were carried out where possible. Five children underwent Toupet fundoplication and in 17 children a modified Toupet fundoplication with reinforcement of the wrap fixation using a Vicryl-mesh was applied. A pH-metric study and upper gastrointestinal series with reflux testing were done in all 22 children at least 6 months postoperatively. Successful control of GER was documented in 21 of 22 children (95.5%). In the remaining child a reoperation was necessary to correct recurrence of a sliding hiatal hernia and GER. In three children (13.6%) postoperative complications occurred within the first 2 weeks following fundoplication and were managed medically. Following the postoperative 24-hour pH-metric study and the upper gastrointestinal series with reflux testing, one child with normal results at these investigations was lost to follow-up. The remaining 21 children were followed up for another 10 months to 5 years. Four children (18.2%) were found to suffer from functional complications (mild dumping syndrome, retrosternal pain, vomiting during episodes of asthma, dysphagia). No gas bloat syndrome occurred within the follow-up interval and all children were able to belch and vomit. There was no mortality in our limited series. Our series indicates that the partial (posterior) Toupet wrap and the modified Toupet fundoplication are safe and effective procedures for surgical correction of GER in children which preserve the ability of infants and children to belch and vomit.

MeSH Terms:

  • Adolescence
  • Child
  • Child, Preschool
  • Eructation
  • Female
  • Fundoplication/methods*
  • Gastroesophageal Reflux/surgery*
  • Human
  • Infant
  • Male
  • Retrospective Studies
  • Treatment Outcome
  • Vomiting

PMID: 9617604, UI: 98280598

[back to list]


J Hum Genet 1998;43(1):62-4

A severe case of Moebius syndrome with calcification on the fourth ventricular floor.

Matsunaga Y, Amamoto N, Kondoh T, Ohtsuka Y, Miyazoe H, Kamimura N, Matsumoto T, Tsuji Y

Department of Pediatrics, Nagasaki University School of Medicine, Japan.

We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.

MeSH Terms:

  • Abnormalities, Multiple/radiography*
  • Abnormalities, Multiple/embryology
  • Brain Stem/blood supply
  • Brain Stem/abnormalities
  • Calcinosis/radiography*
  • Case Report
  • Cerebral Ventricles/pathology*
  • Female
  • Human
  • Infant
  • Subclavian Artery/abnormalities
  • Syndrome
  • Tomography, X-Ray Computed

PMID: 9610001, UI: 98272921

[back to list]


J Pediatr Orthop 1998 May-Jun;18(3):314-8

Muscle and tendon size relationships in a paralyzed chick embryo model of clubfoot.

Germiller JA, Lerner AL, Pacifico RJ, Loder RT, Hensinger RN

Section of Orthopaedic Surgery, University of Michigan, Ann Arbor, USA.

Clubfoot is a birth defect that may be related to muscle weakness or imbalance. The purpose of this study was to examine the relationships among muscle and tendon size and embryonic motility in a paralyzed chick embryo model of clubfoot and arthrogryposis. Decamethonium bromide, a neuromuscular blocking agent, was administered to a series of embryos in five dosage groups, producing a cohort of embryos with various degrees of paralysis and atrophy of tendons and muscle. Embryonic movement frequency was monitored, and after death in late gestation, the cross-sectional areas of the calf musculature and the gastrocnemius tendon proximal to the ankle were measured histologically. Significant correlations were found between embryonic motility and both muscle (r2 = 0.52) and tendon (r2 = 0.77) areas. In addition, a significant correlation (r2 = 0.74) was found between muscle and tendon areas, suggesting that a measurement of one may be used to predict the other.

MeSH Terms:

  • Animal
  • Chick Embryo
  • Clubfoot/etiology*
  • Decamethonium Compounds/administration & dosage
  • Disease Models, Animal
  • Hindlimb/pathology*
  • Movement
  • Muscle, Skeletal/pathology*
  • Muscular Atrophy/physiopathology
  • Muscular Atrophy/pathology*
  • Muscular Atrophy/etiology
  • Neuromuscular Blocking Agents/administration & dosage
  • Paralysis/physiopathology
  • Paralysis/pathology*
  • Paralysis/chemically induced
  • Support, Non-U.S. Gov't
  • Support, U.S. Gov't, P.H.S.
  • Tendons/pathology*

Substances:

  • decamethonium
  • Neuromuscular Blocking Agents
  • Decamethonium Compounds

Grant support:

  • AR20557/AR/NIAMS

PMID: 9600555, UI: 98261182

[back to list]


Am J Hum Genet 1998 May;62(5):1123-8

Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

Moynihan LM, Bundey SE, Heath D, Jones EL, McHale DP, Mueller RF, Markham AF, Lench NJ

Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom.

We describe a highly consanguineous family, originating from Pakistan, displaying histiocytosis, joint contractures, and sensorineural deafness. The form of histiocytosis exhibited by this family does not fit readily into any of the recognized classes of this disease. It appears to represent a novel form of familial histiocytosis demonstrating autosomal recessive inheritance. Using autozygosity mapping, we have identified a homozygous region of approximately 1 cM at chromosome 11q25, in affected individuals. A maximum two-point LOD score of 3.42 (recombination fraction straight theta = .00) was obtained with marker D11S968. This is the first genetic locus to be described that is involved in the molecular pathogenesis of histiocytosis.

MeSH Terms:

  • Abnormalities, Multiple/genetics*
  • Adolescence
  • Arthrogryposis/genetics*
  • Case Report
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Female
  • Genes, Recessive*
  • Hearing Loss, Sensorineural/genetics*
  • Histiocytosis/genetics*
  • Human
  • Linkage (Genetics)
  • Male
  • Middle Age
  • Pedigree
  • Support, Non-U.S. Gov't
  • Syndrome

PMID: 9545394, UI: 98213577

[back to list]


J Pediatr Orthop 1997 Nov-Dec;17(6):803-7

Management of clubfoot deformity in amyoplasia.

Niki H, Staheli LT, Mosca VS

Children's Hospital and Medical Center, Seattle, Washington 98105, USA.

Forty-one clubfeet in 22 patients with amyoplasia were studied retrospectively at a mean duration after surgery of 118 months (range, 45-253). The clubfeet were managed by a regimen including initial stretching casts, posteromedial release, and postoperative splinting at night. The mean age at the time of surgery was 7.3 months. Correction of deformity without recurrence was achieved in 11 (27%). Recurrent deformity was corrected by serial casting in eight feet and required secondary operative procedures in 20 feet. In the feet without recurrence of deformity, the duration of splinting at night after surgery was significantly longer than in those with recurrence (p < 0.05). At follow-up, 39 (95%) feet were plantigrade and were considered satisfactory. Our findings suggest that most clubfeet in amyoplasia can be effectively corrected by posteromedial release and that the recurrence of deformity can be reduced by splinting at night and often corrected by serial cast treatment.

MeSH Terms:

  • Abnormalities, Multiple/therapy
  • Abnormalities, Multiple/surgery
  • Algorithms
  • Arthrogryposis/complications*
  • Casts, Surgical
  • Clubfoot/therapy*
  • Clubfoot/surgery
  • Clubfoot/etiology
  • Female
  • Human
  • Infant
  • Infant, Newborn
  • Male
  • Recurrence
  • Reoperation
  • Splints

PMID: 9591987, UI: 98252684

[back to list]


Pediatr Neurol 1998 Apr;18(4):362-5

Microlissencephaly.

Sztriha L, Al-Gazali L, Varady E, Nork M, Varughese M

Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.

An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem and cerebellum. All three neonates had microcephaly, arthrogryposis multiplex congenita, and micropenis. The presence of three affected newborn infants in a consanguineous family suggests an autosomal-recessive mode of inheritance of this syndrome. The spectrum of microlissencephaly syndrome is reviewed.

Publication Types:

  • Review
  • Review of reported cases

MeSH Terms:

  • Abnormalities, Multiple*
  • Arabs
  • Arthrogryposis/pathology
  • Brain/pathology
  • Brain/abnormalities*
  • Case Report
  • Cerebellum/abnormalities
  • Consanguinity
  • Corpus Callosum/pathology
  • Corpus Callosum/abnormalities
  • Fatal Outcome
  • Genitalia, Male/abnormalities
  • Human
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly/pathology*
  • Pedigree
  • Syndrome

PMID: 9588537, UI: 98247951

[back to list]


An Esp Pediatr 1998 Feb;48(2):197-200

The sequence of fetal akinesia/hypokinesia, Pena-Shokeir syndrome, multiple congenital arthrogryposis and/or short umbilical cord: conceptual delimitation.
[Article in Spanish]

Gonzalez de Dios J, Garcia-Alix A

Publication Types:

  • Comment
  • Letter

Comments:

  • Comment on: An Esp Pediatr 1997 Mar;46(3):288-90

MeSH Terms:

  • Abnormalities, Multiple/diagnosis*
  • Arthrogryposis/diagnosis*
  • Face/abnormalities*
  • Female
  • Fetal Development*
  • Fetal Movement*
  • Human
  • Infant, Newborn
  • Pregnancy
  • Syndrome
  • Umbilical Cord/abnormalities*

PMID: 9577032, UI: 98237887

[back to list]


J Pediatr Orthop 1998 Mar-Apr;18(2):273-4

Cases of congenital dislocation of the knee (CDK) not associated with clubfoot, arthrogryposis multiplex congenita, and Larsen's syndrome can be treated conservatively.

Bhatia RK, Pyman J, Gargan MF, Witherow PJ

Publication Types:

  • Comment
  • Letter

Comments:

  • Comment on: J Pediatr Orthop 1997 Jan-Feb;17(1):59-62

MeSH Terms:

  • Arthrogryposis/complications
  • Casts, Surgical
  • Child
  • Child, Preschool
  • Clubfoot/complications
  • Craniofacial Abnormalities/complications
  • Dislocations/therapy*
  • Dislocations/complications
  • Dislocations/congenital*
  • Female
  • Human
  • Knee Joint*
  • Male
  • Splints
  • Syndrome

PMID: 9531418, UI: 98189907

[back to list]


Hand Clin 1998 Feb;14(1):77-84

Congenital clasped thumb.

Mih AD

Department of Orthopaedic Surgery, Indiana University School of Medicine, Indianapolis, USA.

Congenital clasped thumb is a disorder characterized by flexion posture of the thumb secondary to extensor side underdevelopment, flexor side tightness, or both. Mild cases may be treated by splintage whereas more advanced cases require tendon transfer or a combination of tendon transfer and flexor side releases. Clasped thumb can be seen in conjunction with syndromes such as arthrogryposis and, in these cases, recognition of the abnormal anatomic structures is required to effect satisfactory reconstruction.

Publication Types:

  • Review
  • Review, tutorial

MeSH Terms:

  • Child
  • Human
  • Thumb/abnormalities*

PMID: 9526158, UI: 98186906

[back to list]


Am J Med Genet 1998 Feb 26;76(1):93-8

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).

Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M

Department of Human Genetics, University of Utah Health Sciences Center, Salt Lake City 84112-5330, USA.

We describe the clinical characteristics of a provisionally unique form of distal arthrogryposis. The anomalies observed in affected individuals are more severe than those in distal arthrogryposis type 1 and are similar to but less dramatic than those described in distal arthrogryposis type 2A (Freeman-Sheldon syndrome). Consequently, we label this disorder distal arthrogryposis type 2B (DA2B). Affected individuals have vertical talus, ulnar deviation, severe camptodactyly, and a distinctive face characterized by a triangular shape, prominent nasolabial folds, downslanting palpebral fissures, small mouth, and a prominent chin. A gene for DA2B maps to chromosome 11p15.5. We suggest that DA2B is partly responsible for the clinical variability observed in Freeman-Sheldon syndrome.

MeSH Terms:

  • Abnormalities, Multiple/pathology
  • Abnormalities, Multiple/genetics
  • Adult
  • Arthrogryposis/pathology*
  • Arthrogryposis/genetics
  • Arthrogryposis/classification*
  • Child
  • Craniofacial Abnormalities/pathology
  • Craniofacial Abnormalities/genetics
  • Female
  • Genes, Dominant
  • Human
  • Infant
  • Male
  • Pedigree
  • Phenotype
  • Support, Non-U.S. Gov't
  • Support, U.S. Gov't, P.H.S.
  • Syndrome

Grant support:

  • RR-00064/RR/NCRR

PMID: 9508073, UI: 98167492

[back to list]


Am J Med Genet 1998 Feb 17;75(5):453-60

Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: a distinct autosomal-recessive disorder.

Sarralde A, Reynoso MC, Nazara Z, Soto F, Hernandez A

Division de Genetica, Centro de Investigacion Biomedica de Occidente, Subjefactura de Investigacion Cientifica, Guadalajara, Mexico.

We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset. To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance.

MeSH Terms:

  • Adolescence
  • Adult
  • Arthrogryposis/genetics*
  • Case Report
  • Child
  • Contracture/genetics
  • Female
  • Fetal Growth Retardation/genetics*
  • Foot Deformities, Congenital/genetics
  • Genes, Recessive
  • Human
  • Limb Deformities, Congenital/genetics*
  • Male
  • Pedigree
  • Pelvis/radiography
  • Pelvis/abnormalities*

PMID: 9489787, UI: 98149431

[back to list]


J Pediatr Orthop B 1998 Jan;7(1):35-8

Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures.

Breslau-Siderius EJ, Engelbert RH, Pals G, van der Sluijs JA

Clinical Genetic Center, Utrecht, The Netherlands.

Bruck syndrome manifests with combined features of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder with normal collagen I. The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures. The presence of arthrogryposis differentiates this syndrome from "classical" osteogenesis imperfecta. A family with three affected children is presented with a review of the literature.

MeSH Terms:

  • Arthrogryposis/complications*
  • Case Report
  • Child
  • Child, Preschool
  • Contracture/complications*
  • Female
  • Human
  • Male
  • Osteogenesis Imperfecta/complications*
  • Osteoporosis/complications*
  • Syndrome

PMID: 9481655, UI: 98142654

[back to list]


Prenat Diagn 1997 Dec;17(12):1187-8

Maternal serum screening abnormality in a fetus associated with arthrogryposis multiplex congenita and amyoplasia.

Chen CP, Lin SP

Publication Types:

  • Comment
  • Letter

Comments:

  • Comment on: Prenat Diagn 1997 Feb;17(2):166-9

MeSH Terms:

  • Adult
  • Arthrogryposis/embryology
  • Arthrogryposis/diagnosis*
  • Arthrogryposis/complications
  • Biological Markers/blood
  • Case Report
  • Fatal Outcome
  • Female
  • Gonadotropins, Chorionic/blood
  • Human
  • Infant, Newborn
  • Male
  • Pregnancy
  • Pregnancy Outcome
  • Prenatal Diagnosis/methods*
  • alpha-Fetoproteins/analysis

Substances:

  • Gonadotropins, Chorionic
  • Biological Markers
  • alpha-Fetoproteins

PMID: 9467818, UI: 98128999

[back to list]


Genet Couns 1997;8(4):351-2

Proteus syndrome and distal arthrogryposis.

Ioan DM, Efimov N, Milcu SM, Fryns JP

Publication Types:

  • Letter

MeSH Terms:

  • Arthrogryposis*
  • Case Report
  • Child
  • Hand Deformities, Congenital
  • Human
  • Male
  • Proteus Syndrome*

PMID: 9457508, UI: 98118834

[back to list]


Midwifery Today Childbirth Educ 1997 Summer;(42):51-2

Amish miracle baby.

von der Ahe E

MeSH Terms:

  • Arthrogryposis/nursing*
  • Case Report
  • Christianity*
  • Ethnic Groups*
  • Female
  • Home Childbirth*
  • Human
  • Infant, Newborn
  • Male
  • Nurse Midwives*
  • Pregnancy

PMID: 9429439, UI: 98091274

[back to list]


J Pediatr 1997 Dec;131(6):932-4

Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet.

Swoboda KJ, Specht L, Jones HR, Shapiro F,
DiMauro S, Korson M

Department of Genetics and Metabolism, Children's Hospital, Boston, MA 02115, USA.

We report a 2-year-old boy with phosphofructokinase deficiency presenting in the newborn period with congenital arthrogryposis and severe myopathy, who has had significant improvement on a ketogenic diet since its institution at 4 months of age. We provide a rationale for use of this treatment and hypothesize it may be beneficial in other patients with phosphofructokinase deficiency and progressive muscular involvement. Confirmation awaits further clinical trials in carefully selected patients.

Publication Types:

  • Review
  • Review of reported cases

MeSH Terms:

  • Arthrogryposis/urine
  • Arthrogryposis/diet therapy*
  • Biopsy
  • Case Report
  • Dietary Fats/administration & dosage
  • Electromyography
  • Human
  • Infant, Newborn
  • Male
  • Muscle, Skeletal/physiopathology
  • Muscle, Skeletal/pathology
  • Muscle, Skeletal/chemistry
  • Treatment Outcome
  • 6-Phosphofructokinase/deficiency*
  • 6-Phosphofructokinase/analysis

Substances:

  • Dietary Fats
  • 6-Phosphofructokinase

PMID: 9427905, UI: 98089374

[back to list]


Acta Anaesthesiol Scand Suppl 1997;111:211-4

The pediatric high-risk patient in orthopedic surgery.

Redl G

Orthopaedisches Spital Speising, Wien, Oesterreich.
gredl@pan.at

MeSH Terms:

  • Analgesia
  • Anesthesia, Conduction
  • Anesthesia, General*
  • Anesthesia, Local
  • Arthrogryposis/surgery
  • Bone Diseases/surgery*
  • Bone Diseases/complications
  • Cerebral Palsy/surgery
  • Cerebral Palsy/physiopathology
  • Child
  • Human
  • Meningomyelocele/surgery
  • Osteochondrodysplasias/surgery
  • Osteochondrodysplasias/complications
  • Posture
  • Risk Factors
  • Spinal Cord Compression/etiology

PMID: 9421017, UI: 98082587

[back to list]


Pediatr Neurol 1997 Oct;17(3):249-51
Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita.

Laubscher B, Janzer RC, Krahenbuhl S, Hirt L, Deonna T

Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

We describe a neonate with hypotonia, weakness, early death owing to respiratory failure, and a severe form of arthrogryposis multiplex congenita. Postmortem studies revealed numerous ragged-red fibers and central nervous system abnormalities consistent with a mitochondrial disease. No NADH:ubiquinone-1 oxidoreductase (complex I) activity could be detected in skeletal muscle. These findings suggest that mitochondrial cytopathies can be associated with arthrogryposis multiplex congenita and should therefore be sought in neonates presenting with severe arthrogryposis.

MeSH Terms:

  • Arthrogryposis/physiopathology
  • Arthrogryposis/pathology*
  • Case Report
  • Human
  • Infant, Newborn
  • Male
  • Mitochondrial Encephalomyopathies/physiopathology
  • Mitochondrial Encephalomyopathies/pathology*
  • NAD(P)H Dehydrogenase (Quinone)/deficiency*

Substances:

  • NAD(P)H Dehydrogenase (Quinone)

PMID: 9390702, UI: 98051068

[back to list]


Clin Dysmorphol 1997 Oct;6(4):359-63

Fetal akinesia deformation sequence in a highly developed acardius twin.

Konstantinidou AE, Agapitos EV, Pavlopoulos PM, Davaris PS

Department of Pathology, School of Medicine, National University of Athens, Greece.

We report a case of a holoacardius twin with extremely advanced development of the head, face, upper and lower limbs in the absence of all thoracic and upper abdominal viscera and associated with intestinal and anal atresia. The malformed fetus also had craniofacial abnormalities, hydrops, cystic hygroma of the neck, arthrogryposis and pterygia. The monozygous co-twin was found to be normal. The association of acardia with the typical characteristics of the fetal akinesia deformation sequence has not been previously described in the literature.

MeSH Terms:

  • Abnormalities, Multiple*
  • Adult
  • Case Report
  • Diseases in Twins*
  • Female
  • Fetal Death*
  • Human
  • Pregnancy

PMID: 9354846, UI: 98016466

[back to list]


Clin Dysmorphol 1997 Oct;6(4):329-36

Osteogenesis imperfecta with arthrogryposis multiplex congenita (Bruck syndrome)--evidence for possible autosomal recessive inheritance.

Brady AF, Patton MA

Department of Medical Genetics, St George's Hospital Medical School, London, UK.

We report a son and a daughter of a first cousin Pakistani marriage who both have osteogenesis imperfecta and the son in addition has arthrogryposis multiplex congenita. Bruck [(1897): Dtsch Med Wochenschr 23: 152-155] first reported the case of a boy who had multiple fractures and joint ankylosis, subsequently only one sibship with three affected cases and seven sporadic cases have been reported to our knowledge. On the basis of consanguinity this suggests that the association of osteogenesis imperfecta and arthrogryposis multiplex congenita is inherited in this family as an autosomal recessive condition with variable expression.

MeSH Terms:

  • Arthrogryposis*/genetics
  • Case Report
  • Child
  • Female
  • Genes, Recessive
  • Human
  • Infant
  • Male
  • Osteogenesis Imperfecta*/genetics
  • Syndrome
PMID: 9354841, UI: 98016461

[back to list]