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Abstracts, Arthrogryposis, 1989-96
J Med Genet 1994 Oct;31(10):820
NLM CIT. ID: 95139059
Arthrogryposis multiplex congenita,
renal dysfunction, and cholestasis syndrome [letter; comment]
Saraiva JM; Mota HC
COMMENT:
J Med Genet 1994 Jan;31(1):62-4
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J
Pediatr Orthop 1994 Nov-Dec;14(6):768-72
NLM CIT. ID: 95114083
Foot deformities in arthrogryposis multiplex
congenita.
Soderg;Richard J; Ryoppy S
Department of Surgery and Orthopedics, Children's Hospital,
University Central Hospital, Helsinki, Finland.
Foot deformities are common in arthrogryposis multiplex
congenita. In this group of 52 patients with this diagnosis, 43
had foot deformities. The involvement was bilateral in all cases,
and the most common type of deformity was talipes equinovarus (72
feet). The primary treatment in 52 of these patients was operative.
Brockmann's procedure was the preferred method during the earlier
years and posteromedial or posteromedioplantar release since 1974.
Recurrences of the deformity are common; 36
operative procedures were done in 15 feet for recurrence of talipes
equinovarus. The primary operative treatment should be extensive
enough to correct all components of the deformity. Knee and hip
deformity will often influence the outcome. Knee deformities especially
cause problems in retaining the desired position of the feet. Talectomy
and bone decancellations both seem to be effective in treating recurrences.
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Am
J Hum Genet 1994 Dec;55(6):1153-8
NLM CIT. ID: 95067978
A gene for distal arthrogryposis type I
maps to the pericentromeric region of chromosome 9.
Bamshad M; Watkins WS; Zenger RK; Bohnsack JF;
Carey JC; Otterud B; Krakowiak PA; Robertson M; Jorde LB
Department of Pediatrics, University of Utah Health Sciences
Center, Salt Lake City 84132-1001.
Club foot is one of the most common human congenital
malformations. Distal arthrogryposis type I (DA-1) is a frequent
cause of dominantly inherited club foot. Performing a genomewide
search using short tandem repeat (STR) polymorphisms, we have mapped
a DA-1 gene to the pericentromeric region of chromosome 9 in a large
kindred. Linkage analysis has generated a positive lod score of
5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing
the region have been identified. Analysis of an additional family
demonstrated no linkage to the same locus, indicating likely locus
heterogeneity. Of the autosomal congenital contracture disorders
causing positional foot deformities, this is the first to be mapped.
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Gene Symbol:
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J
Med Genet 1994 Jul;31(7):521-7
NLM CIT. ID: 95055600
Lethal congenital contracture syndrome:
further delineation and genetic aspects.
Vuopala K; Herva R
Department of Pathology, University of Oulu, Finland.
In a national morphology based study of lethal
arthrogryposis between 1979 and 1992, 40 fetuses and infants with
lethal congenital contracture syndrome (LCCS, McKusick 253310) were
found in Finland. The incidence of LCCS in Finland was 1:19,000
births. There were 20 affected males and 20 affected females in
26 families. In 16 cases the pregnancy was terminated after the
prenatal diagnosis of total akinesia and fetal hydrops on ultrasound.
There were 19 stillborn infants and five were born showing signs
of life, but died within one hour. The segregation analyses yielded
0.45 affected by the "singles" method and 0.34 by the
"sib" method. The birthplaces of the grandparents were
located in the sparsely populated north east of Finland. This finding
supports the existence of an autosomal recessive LCCS gene in Finland,
particularly in the north eastern part.
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Childs
Nerv Syst 1994 Jul;10(5):347-9
NLM CIT. ID: 95042419
Familial infantile myasthenia: a neuromuscular
cause of respiratory failure.
Zammarchi E; Donati MA; Masi S; Sarti A; Castelli
S
Department of Paediatrics, University of Florence, Italy.
Acute respiratory failure can be the product of
any of a great number of muscular, neuromuscular, and neurologic
causes. The family history may be extremely helpful in narrowing
the differential diagnosis. We report the case of a girl who, during
the course of a slight upper respiratory infection, presented with
acute respiratory failure requiring mechanical ventilation. The
family history was significant for a brother who had arthrogryposis
and died at 15 h of life, also from respiratory failure. The patient
herself had a history of palpebral ptosis in the evening. The absence
of electromyographic and muscle biopsy abnormalities and the patient's
positive response to anticholinesterase therapy supported the diagnosis
of familial infantile myasthenia. We emphasize the importance of
considering the myasthenic syndromes in the differential diagnosis
of acute respiratory failure, since appropriate therapy can rapidly
resolve the symptoms. Furthermore, an accurate diagnosis allows
appropriate genetic counseling for the hereditary forms.
Publication Types:
Language:
Registry Numbers:
- 0 (Delayed-Action Preparations)
101-26-8 (Pyridostigmine Bromide)
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Arch
Orthop Trauma Surg 1994;113(5):248-53
NLM CIT. ID: 95033747
Early surgical treatment for congenital
vertical talus.
Wirth T; Schuler P; Griss P
Klinik fur Orthopadie, Klinikum Lahnberge, Marburg, Germany.
Congenital vertical talus is characterised by a
dislocated talonavicular joint in association with an equinus position
of the calcaneus. We report the results in 13 operated feet in 10
children, 3 of whom (5 feet) presented with a primary neurological
disorder and 2 of whom (3 feet) suffered from arthrogryposis multiplex
congenita. The other children were normal. All patients were surgically
treated by a one-stage procedure which included reduction of the
talonavicular joint and correction of the hindfoot equinus, trying
to avoid tendon lengthenings and transfers. The age at operation
was between the 3rd and the 6th month of life, with one child being
operated on later due to other reasons. The patients were reviewed
after an average time of 3.5 +/- 2.2 years. The clinical results
were good or excellent in ten feet. Two feet showed partial or complete
recurrence and one foot was slightly over-corrected. Radiographic
angle measurements (talo-metatarsal I angle and talocalcaneal angle
on the anteroposterior radiograph; talocalcaneal, tibiotalar and
tibiocalcaneal angles on the lateral radiograph) returned to normal
values in the ten good or excellent feet. Early operative treatment
for congenital pes vertical talus leads to very satisfactory functional
and cosmetic results, usually avoiding extensive procedures including
tendon lengthenings and tendon transfers.
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Singapore Med J 1994 Apr;35(2):208-10
NLM CIT. ID: 95026093
Multiple pterygium syndrome (Escobar syndrome)--a
case report.
Goh A; Lim KW; Rajalingam V
Department of Paediatrics, Tan Tock Seng Hospital, Singapore.
A 4-year-old boy with Escobar Syndrome, a rare
syndrome of sporadic or autosomal recessive inheritance is described.
The main features include small stature, multiple pterygia of the
neck, axilla, antecubital area, a typical facies and limb abnormalities
with normal intelligence.
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Pediatrics 1994 Nov;94(5):682-6
NLM CIT. ID: 95022918
An approach to ventilator-dependent neonates
with arthrogryposis.
Bianchi DW; Van Marter LJ
Joint Program in Neonatology,
Harvard Medical School,
Boston, MA 02115.
OBJECTIVE. To identify the clinical factors and/or
test results necessary to determine the diagnosis and prognosis
for a group of neonates who presented with respiratory insufficiency
and multiple contractures.
METHODS. We performed a retrospective review of medical records
and identified 15 newborns over a 10-year period (1980 through 1990)
who had arthrogryposis multiplex congenita and required ventilator
support at birth. We designed a 104 item data base to record clinical
information; this was subsequently analyzed using the Clinfo data
base program for statistical analysis.
RESULTS. Fourteen of the 15 patients died. Of the fourteen, 13 were
electively extubated after a variable time course (2 hours to 64
days). Autopsies performed on all 14 revealed an approximately equal
distribution of central nervous system (CNS) malformations, peripheral
neuropathies, and peripheral myopathies as the etiology. The single
survivor had myasthenia gravis.
CONCLUSION. In neonates with arthrogryposis, ventilator dependence
at birth carries a poor prognosis. Prenatal factors that potentially
predict respiratory insufficiency for
the fetus with arthrogryposis include decreased fetal movements,
polyhydramnios, micrognathia, and thin ribs. The combination of
a thorough physical examination and radiographic and neuromuscular
studies may not result in a specific diagnosis, but it can
indicate whether the abnormality is in the CNS, peripheral nerves
or muscles. Before elective withdrawal of ventilatory support, an
edrophonium chloride challenge test should be performed to rule
out myasthenia gravis.
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Aust
N Z J Ophthalmol 1994 May;22(2):127-32
NLM CIT. ID: 95000633
Arthrogryposis multiplex congenita: a report
of two cases.
Brooks JG Jr; Coster DJ
:
Department of Ophthalmology,
Flinders Medical Centre,
Bedford Park, South Australia.
Arthrogryposis multiplex congenita refers to a
group of birth defects characterised by multiple joint contractures.
The syndrome is caused by neuropathic disease, myopathic disease,
or any other cause of decreased fetal joint mobility. Multiple and
usually symmetric joint abnormalities with associated muscular and
soft tissue hypoplasia are noted at birth. A variety of associated
congenital anomalies affecting many organ systems are frequently
found. Ocular and orbital findings have been described in patients
with arthrogryposis but corneal disease has only rarely been reported.
We present corneal findings in two patients with arthrogryposis
and discuss the implications for disease pathogenesis. Previous
ophthalmologic reports are also reviewed.
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Clin
Genet 1994 Jan;45(1):11-6
NLM CIT. ID: 94199859
Congenital myopathy with fiber type disproportion:
a family with a chromosomal translocation t(10;17) may indicate
candidate gene regions.
Gerdes AM; Petersen MB; Schroder HD; Wulff K;
Brondum-Nielsen K
Department of Clinical Chemistry,
Odense University Hospital,
Denmark.
A patient with myopathy and congenital fiber type
disproportion presented at birth with arthrogryposis multiplex congenita,
dislocation of the hips and mild scoliosis. Later in life she developed
marked muscle weakness. A balanced chromosomal translocation t(10;17)
(p11.2;q25), transmitted by the clinically healthy mother, who nevertheless
showed discrete signs of myopathy, was demonstrated. DNA analysis
excluded maternal uniparental disomy for loci on both chromosomes
10 and 17. We suggest that the translocation breakpoints are candidate
regions for a myopathy gene.
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Ann
Otol Rhinol Laryngol 1994 Sep;103(9):729-31
NLM CIT. ID: 94368005
Middle ear deformity in arthrogryposis
multiplex congenita.
Quinn SJ; Bleach NR; Richards AE
ENT Department, Charing Cross Hospital, London, England.
Arthrogryposis multiplex congenita (AMC) is a rare
congenital syndrome consisting of two or more joint contractures
in different parts of the body. Otolaryngological abnormalities
have been previously described in a significant proportion of cases.
However, to date, the only frequent otologic deformity recorded
in the published literature has been low-set ears. We present a
case with a combination of AMC and a bilateral conductive hearing
loss due to an unusual middle ear deformity. To our knowledge, no
such case has been previously reported.
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Teratology
1994 Apr;49(4):306-10
NLM CIT. ID: 94353331
Effect of coniine on the developing chick
embryo.
Forsyth CS; Frank AA; Watrous BJ; Bohn AA
Interdisciplinary Toxicology Program,
Oregon State University,
Corvallis 97331.
Coniine, an alkaloid from Conium maculatum (poison
hemlock), has been shown to be teratogenic in livestock. The major
teratogenic outcome is arthrogryposis, presumably due to nicotinic
receptor blockade. However, coniine has failed to produce arthrogryposis
in rats or mice and is only weakly teratogenic in rabbits. The purpose
of this study was to evaluate and compare the effects of coniine
and nicotine in the developing chick. Concentrations of coniine
and nicotine sulfate were 0.015%, 0.03%, 0.075%, 0.15%, 0.75%, 1.5%,
3%, and 6% and 1%, 5%, and 10%, respectively. Both compounds caused
deformations and lethality in a dose-dependent manner. All concentrations
of nicotine sulfate caused some lethality but a no effect level
for coniine lethality was 0.75%. The deformations caused by both
coniine and nicotine sulfate were
excessive flexion or extension of one or more toes. No histopathological
alterations or differences in bone formation were seen in the limbs
or toes of any chicks from any group; however, extensive cranial
hemorrhage occurred in all nicotine sulfate-treated chicks. There
was a statistically significant (P < or = 0.01) decrease in movement
in coniine and nicotine sulfate treated chicks as determined by
ultrasound. Control chicks were in motion an average of 33.67% of
the time, while coniine-treated chicks were only moving 8.95% of
a 5-min interval, and no movement was observed for nicotine sulfate
treated chicks. In summary, the chick embryo provides a reliable
and simple experimental animal model of coniine-induced arthrogryposis.
Data from this model support a mechanism involving nicotinic receptor
blockade with subsequent decreased fetal movement.
Publication Types:
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Registry Numbers:
- 0 (Alkaloids)
- 0 (Teratogens)
- 10388-95-1 (coniine)
- 54-11-5 (Nicotine)
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J
Inherit Metab Dis 1994;17(1):153-5
NLM CIT. ID: 94328596
Fatal arthrogryposis with respiratory
insufficiency: a possible case of muscle phosphorylase b-kinase
deficiency.
Shin YS; Plochl E; Podskarbi T; Muss W; Pilz P;
Puttinger R
Children's Hospital, University of Munich, Germany.
Publication Types:
Language:
Registry Numbers:
- EC 2.7.1.38 (Phosphorylase Kinase)
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Acta Orthop Scand 1994 Jun;65(3):349-50
NLM CIT. ID: 94317516
Talectomy for osteoporotic and neuropathic
feet. 7 cases followed for 2-3 years.
Gunal I
University of Anadolu,
School of Medicine,
Department of Orthopedics,
Eskisehir, Turkey.
I modified a technique of talectomy reported previously
for osteoporotic cases. A larger medial malleolar fragment is displaced
laterally to prevent the bone from being splintered during fixation.
2 Hawkins Group III fracture-dislocations of the talus and 4 equinovarus
feet were successfully treated by this technique.
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Can
J Cardiol 1994 Jun;10(5):548-50
NLM CIT. ID: 94282665
Ambulatory monitoring of the sudden death
of an adolescent with hypertrophic cardiomyopathy.
Gardin LL; Nanton MA; Hanna BD
Faculty of Medicine,
Department of Physiology and Biophysics,
Dalhousie University.
Sudden death is an important cause of mortality
in hypertrophic cardiomyopathy. Several mechanisms have been proposed,
but ambulatory monitoring of the event has rarely occurred. The
case of an adolescent girl with congenital hypertrophic cardiomyopathy
and arthrogryposis multiplex congenita is presented. Despite appropriate
therapy and severe activity limitation, the patient's condition
progressively worsened. The patient died suddenly in her sleep,
one month after a myocardial myomectomy for subaortic stenosis.
The fortuitous ambulatory electrocardiographic (ECG) monitoring
of the event recorded polymorphic ventricular tachycardia degrading
into ventricular fibrillation. Retrospective review of previous
ambulatory ECG revealed the presence of nonsustained ventricular
tachycardia, a predictive determinant for sudden death, and atrioventricular
node dysfunction. However, the patient had never reported symptoms
during the dysrhythmias. The pathological specimen showed an unexpected
old apical infarction scar, suggesting that her preoperative cardiac
status was worse than suspected. In summary, the mechanism of sudden
death in this patient was revealed by ambulatory ECG monitoring,
and the involvement of neural and myocardial factors are proposed.
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Pediatr
Pathol 1994 Mar-Apr;14(2):277-85
NLM CIT. ID: 94277919
Lethal congenital muscular dystrophy with
arthrogryposis multiplex congenita: three new cases and review of
the literature.
Sombekke BH; Molenaar WM; van Essen AJ; Schoots CJ
Department of Pathology,
University of Groningen,
The Netherlands.
Congenital muscular dystrophy (CMD) comprises a
heterogeneous group of muscle disorders. We report on two stillborn
sibs with early lethal CMD and a prematurely born boy who died within
minutes after birth. The pregnancies were complicated by polyhydramnios.
All presented with arthrogryposis multiplex congenita, severe muscle
wasting, lung hypoplasia, and hydrops. The muscle biopsies showed
fibrosis, variation in fiber size, and extensive fat replacement
compatible with muscular dystrophy. Fatal CMD seems to be distinct
from CMD with survival after birth and is probably autosomal recessively
inherited.
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Neuropediatrics
1994 Feb;25(1):48-50
NLM CIT. ID: 94268631
Congenital muscular dystrophy with distinct
CNS involvement.
Olive M; Sirvent J; Ferrer I
Unidad de Neuropatologia, Hospital Principes de Espana,
Universidad de Barcelona, Spain.
The sixth child of non-consanguineous parents,
who had suffered from severe arthrogryposis syndrome and microcephalia,
died at the age of two days. Post-mortem study revealed unique morphological
brain anomalies characterized by severe cerebral and cerebellar
atrophy, focal cerebral mycrogiria and ectopic masses of immature
cells in the periventricular region and cerebral white matter; pachygyria
was absent. In addition,
muscular examination was consistent with severe muscular dystrophy.
These findings suggest that new forms of combined cerebral abnormalities
and muscular dystrophy of congenital origin can be recognized in
isolated cases.
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Surv Ophthalmol 1994 Jan-Feb;38(4):395-6
NLM CIT. ID: 94212279
Duane's retraction syndrome and arthrogryposis
multiplex congenita [letter; comment]
Miller BA; Pollard ZF
COMMENT:
Surv Ophthalmol 1993 Nov-Dec;38(3):257-88
Publication Types:
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J Med Genet 1994 Jan;31(1):62-4
NLM CIT. ID: 94202144
Liver histology in the arthrogryposis
multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome:
report of three new cases and review [see comments]
Horslen SP; Quarrell OW; Tanner MS
Department of Paediatrics, Sheffield Children's Hospital, UK.
COMMENT:
J Med Genet 1994 Oct;31(10):820
We report three cases from two unrelated families
of infants with arthrogryposis multiplex congenita, cholestatic
jaundice, and renal Fanconi's syndrome. In both families the parents
were consanguineous. All three children died by 7 months of age.
This association was first reported in 1973 by Lutz-Richner and
Landolt and again in another family by Nezelof et al in 1979. However,
because of differing liver histology the two sibships were considered
to have two separate conditions. Based on the histological findings
in one of our cases we propose that all cases described so far represent
variation within a single syndrome.
Publication Types:
- Journal Article
- Review
- Review of Reported Cases
Language:
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Muscle
Nerve 1994 Feb;17(2):192-7
NLM CIT. ID: 94158935
Dominant congenital benign spinal muscular
atrophy.
Frijns CJ; Van Deutekom J; Frants RR; Jennekens
FG
Department of Neurology,
St. Lucas Hospital, Amsterdam,
The Netherlands.
The affected members of the family described in
this article exhibit congenital nonprogressive atrophy and weakness
of lower limb muscles in association with contractures. Clinical
and laboratory findings support a dominant lower motor neuron disorder.
DNA analysis excluded linkage of the disease with SMA markers on
the long arm of chromosome 5. The condition must be differentiated
from congenital and infantile SMA, from "arthrogryposis multiplex
congenita, distal type," and from non hereditary types of congenital
arthrogryposis.
Publication Types:
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Registry Numbers
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08829449
94144449
Acta Vet Scand (DENMARK) 1993, 34 (3) p245- 53, ISSN 0044-
605X Journal Code: 27V
Investigations on the occurrence of hereditary
diseases in the Danish cattle population 1989- 1991.
Agerholm JS; Basse A; Christensen K
Department of Pathology and Epidemiology,
Royal Veterinary and Agricultural University,
Frederiksberg, Denmark.
The methods of the Danish Bovine Genetic Disease Programme are outlined,
and the results obtained during the first 3 years in function are
described. The most common disease reported was spinal muscular
atrophy in calves of the Red Danish Dairy breed with 312 reports.
Necropsy was performed on 162 cases, and spinal muscular atrophy
was diagnosed in 82 of these. Bovine progressive degenerative myeloencephalopathy,
rectovaginal constriction, syndrome of arthrogryposis and palatoschisis,
hereditary chondrodysplasia (2 different types), syndactylism, epitheliogenesis
imperfecta, and osteogenesis imperfecta was diagnosed with 1 case
each. Lethal trait A46 was diagnosed in 4 calves. Some of these
diseases have not previously been described in Denmark, and epitheliogenesis
imperfecta was for the first time diagnosed in the Hereford breed.
Chromosome translocation 1/29 was detected in the Blonde d'Aquitaine
(BAQ), Limousine, and Red Danish Dairy breed. The aberration occurred
frequently in BAQ. Furthermore, a complex chromosome translocation
t(1;8;9)(q45;q13;q26) was detected in the Red Danish Dairy breed.
[back to list]
08823515
94138515
Clin Dysmorphol (ENGLAND) Oct 1993, 2 (4) p365- 8, ISSN
0962- 8827 Journal Code: BYD
An additional case of pachygyria, joint
contractures and facial abnormalities.
Levin ML; Lupski JR; Carpenter RJ Jr; Gerson LP;
Greenberg F
Institute for Molecular Genetics, Baylor College
of Medicine, Houston, TX 77030.
Two previous case reports have described an apparently new lethal
syndrome consisting of pachygyria, joint contractures and facial
abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another
report describes a non-lethal case in which dysmorphic features
were not noted (Massa et al., 1988). We now report on what appears
to be an additional lethal case. This male infant had a lethal condition
with features of large fontanelle, pachygyria with incomplete opercularization,
varus contractures of the hands and feet, small palpebral fissures,
hypertelorism, a small penis, cryptorchidism, camptodactyly and
a sandal gap deformity. These cases appear to represent a new lethal
lissencephaly syndrome associated with arthrogryposis and facial
dysmorphism, which we propose to call the Winter-Tsukahara syndrome.
(3 Refs.)
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08806728
94121728
Pediatr Neurol (UNITED STATES) Sep-Oct 1993, 9 (5) p343-
8, ISSN 0887- 8994 Journal Code: AA5
Neurogenic arthrogryposis multiplex congenita:
clinical and MRI findings.
Fedrizzi E; Botteon G; Inverno M; Ciceri E; D'Incerti
L; Dworzak F
Department of Developmental Neurology,
National Neurological Institute C. Besta, Milan, Italy.
A clinical and magnetic resonance imaging (MRI) study on a selected
group of 11 children, with a diagnosis of neurogenic arthrogryposis
multiplex congenita (AMC) based on clinical, electromyographic,
and muscle biopsy findings, is presented to determine the extent
of central nervous system involvement in AMC. Family history, pregnancy,
perinatal problems, other abnormalities, and epileptic seizures
were reviewed. Neurologic examination, electroencephalography, intellectual
assessment, and MRI study both of spinal cord and brain were performed.
The clinical and laboratory findings disclosed evidence of spinal
cord lesions with involvement of anterior horn cell function in
all patients, and impairment of cerebral function in 5 patients.
MRI revealed spinal cord atrophy in 3 patients, diffuse atrophy
in 2 patients, and involved thoraco-lumbar segments in 1 patient.
Cranial MRI studies demonstrated features of developmental brain
abnormalities in 3 patients, cortical frontal atrophy in 2, and
was normal in 4. In neurogenic AMC patients, MRI examination of
the spinal cord and brain may help to clarify the pathogenesis of
the disease and is helpful for prognostic and therapeutic purposes.
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08778314
94093314
Neuromuscul Disord (ENGLAND) Jul 1993, 3 (4) p335- 9, ISSN
0960- 8966 Journal Code: BJS
Arthrogryposis multiplex in a newborn of
a myasthenic mother--case report and literature.
Dinger J; Prager B
Clinic of Paediatrics, Medical Academy of Dresden, Germany.
About 12% of children of myasthenic mothers exhibit
a transitory myasthenic syndrome. Usually, these symptoms have disappeared
after a few weeks. Treatment with anticholinesterase drugs is successful.
The purpose of this paper is to present an infant born to a myasthenic
mother, with distal arthrogryposis, severe hypotonia and respiratory
distress, unresponsive to administration of pyridostigmine bromide.
Eleven other cases of neonatal myasthenia with arthrogryposis are
known. Five of them were stillborn or died within the first day
of life. The surviving children had profound weakness and needed
ventilatory assistance for a long period. The severity of these
few cases contrasts with the numerous reports of benign and transitory
signs of neonatal myasthenia. Passively transferred maternal acetylcholine
receptor antibodies may produce illness in the newborn. (18 Refs.)
[back to list]
08753237
94068237
Pediatr Pathol (UNITED STATES) Sep-Oct 1993, 13 (5) p685-
98, ISSN 0277- 0938 Journal Code: PEE
A congenital variant of glycogenosis type
IV.
van Noort G; Straks W; Van Diggelen OP; Hennekam
RC
Streeklaboratorium voor Pathologie, Enschede, The Netherlands.
Three related patients are described with glycogenosis type IV with
an unusual clinical presentation resulting in perinatal death. Stored
material showed birefringent Maltese crosses and was present in
skeletal muscles, heart, central nervous system, and liver. Muscular
dysfunction resulted in a fetal hypokinesia sequence with arthrogryposis
and lung hypoplasia. A subdivision of glycogenosis type IV in four
subtypes is proposed, based on age of onset. Measurement of the
enzyme activities in different tissues does not permit, at the moment,
a distinction between the subtypes.
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08749878
94064878
J Pediatr Orthop (UNITED STATES) Nov-Dec 1993, 13 (6) p744-
8, ISSN 0271- 6798 Journal Code: HSW
Soft-tissue expander failure in severe
equinovarus foot deformity.
Bassett GS; Mazur KU; Sloan GM
Department of Orthopaedics, USC School of Medicine.
Soft-tissue expanders have recently been reported
to be useful in clubfoot surgery. We report our experience with
this procedure in five patients with seven severe equinovarus foot
deformities. The primary diagnoses of these patients included distal
arthrogryposis, cerebro-oculo-facial syndrome, ischemic contracture
and spina bifida. Our patients' major complications included ischemia,
infection, and sepsis, which resulted in premature removal of the
soft-tissue expanders in five of seven clubfeet. Minor complications,
such as partial wound dehiscence, occurred in the two successful
expansions. Predisposing factors may include soft-tissue expanders
with self-contained ports, poor compliance, and extremely tight
tissues that limit the subcutaneous space available for expansion,
with resultant diminution of the vascular supply to the overlying
skin.
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08749715
94064715
J Bone Joint Surg Am (UNITED STATES) Nov 1993, 75 (11)
p1699- 714,
ISSN 0021- 9355 Journal Code: HJR
(92 Refs.)
The diagnosis and orthopaedic treatment
of childhood spinal muscular atrophy, peripheral neuropathy, Friedreich
ataxia, and arthrogryposis.
Shapiro F; Specht L
Department of Orthopaedic Surgery,
Children's Hospital,
Harvard Medical School,
Boston, Massachusetts 02115.
Tags: Human
Descriptors: *Arthrogryposis--Surgery--SU; *Friedreich's Ataxia--Surgery
--SU; *Muscular Atrophy, Spinal--Surgery--SU; *Peripheral Nervous
System Diseases--Surgery--SU; Adolescence; Adult; Arthrogryposis--Diagnosis--DI;
Child; Child, Preschool; Friedreich's Ataxia--Diagnosis--DI; Muscular
Atrophy, Spinal--Diagnosis--DI; Neuropathies, Hereditary Motor and
Sensory --Diagnosis--DI; Neuropathies, Hereditary Motor and Sensory--Surgery--SU;
Orthopedics--Methods--MT; Peripheral Nervous System Diseases--Diagnosis--DI
; Spinal Fusion
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08712166
94027166
Am J Med Genet (UNITED STATES) Aug 15 1993, 47 (2) p278-
80, ISSN 0148- 7299 Journal Code: 3L4
Newly recognized autosomal recessive MCA/MR/overgrowth
syndrome.
Richieri-Costa A; Guion-Almeida ML; Cohen MM Jr
Servico de Genetica Dlinica,
Hospital de Pesquisa e Reabilitacao de Lesoes Labio-Palatais,
Universidade de Sao Paulo, Bauru, Brazil.
We report on two sibs, born to nonconsanguineous parents, presenting
with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis,
sacral dimple, and joint laxity. These patients may have a previously
undescribed autosomal recessive syndrome.
[back to list]
08712159
94027159
Am J Med Genet (UNITED STATES) Aug 15 1993, 47 (2) p246-
9, ISSN 0148- 7299 Journal Code: 3L4
Joint contractures, hyperkeratosis, and
severe hypoplasia of the posterior columns: a new recessive syndrome.
Johnston K; Aarons R; Schelley S; Horoupian D
Department of Pediatrics, Stanford University Medical Center, California.
We report on 2 brothers with arthrogryposis, hyperkeratosis, and
severe hypoplasia of dorsal roots and posterior columns in the one
sib who was examined at autopsy. This appears to represent a new
arthrogryposis syndrome with poor prognosis, most likely inherited
as a single gene, either autosomal or X-linked recessive trait.
[back to list]
08692222
94007222
Clin Genet (DENMARK) Jul 1993, 44 (1) p1- 7, ISSN 0009-
9163 Journal Code: DDT
Familial bilateral antecubital pterygia
with severe renal involvement in nail-patella syndrome.
Rizzo R; Pavone L; Micali G; Hall JG
Pediatric Clinic, Catania University, Italy.
A family in whom several members are affected with nail-patella
dysplasia is reported because of severe renal involvement and bilateral
antecubital pterygia. The family presented as arthrogryposis because
of the elbow contractures. (87 Refs.)
Tags: Case Report; Female; Human; Male
[back to list]
08673688
93383688
Acta Paediatr Sin (TAIWAN) Mar-Apr 1993, 34 (2) p132- 6,
ISSN 0001- 6578 Journal Code: 1M6
Arthrogryposis multiplex congenita: report
of a case of amyoplasia.
Yang MT; Chen CH; Mak SC; Wu KH; Chi CS
Department of Pediatrics, Taichung Veterans General Hospital, Taipei,
R.O.C.
Arthrogryposis multiplex congenita is a congenital syndrome characterized
by multiple congenital joint contractures; and refers to a large
heterogeneous group of disorders. We present a 40 days old male
baby who has had multiple fixed contractures of joints since birth.
Midline capillary hemangioma, internal rotation of bilateral shoulders,
extension contracture of elbows, flexed wrists with pronation deformity,
flexion and internal rotation of hips, equinovarus of feet were
noted. A series of examinations for differential diagnosis including
brain sonogram, echocardiogram, muscle echogram, muscle biopsy,
chromosome study were performed and all showed normal findings.
Amyoplasia was impressed. Early rehabilitation was arranged. Normal
intelligence and a normal life span are expected.
[back to list]
08670152
93380152
Clin Genet (DENMARK) Jun 1993, 43 (6) p300- 2, ISSN 0009-
9163 Journal Code: DDT
Distal arthrogryposis with autosomal dominant
inheritance and reduced penetrance in females: the Gordon syndrome.
Ioan DM; Belengeanu V; Maximilian C; Fryns JP
Department of Clinical Genetics, Institute of Endocrinology GJ Parhon,
Bucharest.
A family is reported in which camptodactyly, club foot, pectus excavatum
and undescended testes are transmitted as an autosomal dominant
with reduced penetrance and variable expressivity, affecting 13
members through five generations. Penetrance is more reduced in
females than in males and asymptomatic carriers are always females.
Similar findings were previously described in two other families
reported by Gordon et al. (1962) and Halal & Fraser (1979).
[back to list]
08667715
93377715
Am J Med Genet (UNITED STATES) Aug 1 1993, 47 (1) p45-
9, ISSN 0148- 7299 Journal Code: 3L4
Lethal multiple pterygium syndrome: report
of a case with neurological anomalies.
Spearritt DJ; Tannenberg AE; Payton DJ
Department of Tissue Pathology, Mater Misericordiae Hospital, Brisbane,
Australia.
We report on a 22-week female fetus with multiple pterygia, congenital
joint contractures, muscle hypoplasia, cystic hygroma, hydrops,
pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation.
Examination also documented microcephaly, brain immaturity, and
severe cerebellar and pontine hypoplasia with absence of the pyramidal
tracts. The spinal cord showed a marked decrease in size of all
white matter tracts. The muscles were markedly hypoplastic. The
relation of the neurological findings to the development of the
syndrome is discussed.
[back to list]
08667712
93377712
Am J Med Genet (UNITED STATES) Aug 1 1993, 47 (1) p31-
6, ISSN 0148- 7299 Journal Code: 3L4
Alpers progressive infantile neuronal poliodystrophy:
an acute neonatal form with findings of the fetal akinesia syndrome.
Frydman M; Jager-Roman E;
de Vries L; Stoltenburg-Didinger G; Nussinovitch M; Sirota L
Genetics Clinic, Hasharon Hospital, Golda Medical Center, Petah
Tiqwa, Israel.
We report on 8 patients from two families with Alpers syndrome.
The onset in one family was prenatal and in the 4 patients who were
examined, severe microcephaly, intrauterine growth retardation,
and typical manifestations of fetal akinesia, including retrognathia,
joint limitations, and chest deformity were found. The second family
presented with an early infantile form. All the affected offspring
had micrognathia and one had findings of fetal akinesia, comparable
to those seen in the other family. Microcephaly was mild at birth
and progressed with age. Refractory neonatal convulsions, swallowing
difficulties, and pneumonia complicated the clinical course of patients
in both families, and all the patients died before age 20 months.
Results of comprehensive biochemical and metabolic studies in both
families were normal and the diagnosis was supported by demonstration
of extensive progressive brain atrophy on CT and typical histological
findings. Patients without a detectable defect in energy metabolism
and normal liver histology comprise a distinct subset of Alpers
syndrome. Until the metabolic defect(s) is defined, we suggest naming
the acute neonatal form of this subset of Alpers syndrome "type
1."
[back to list]
08667699
93377699
Am J Med Genet (UNITED STATES) Aug 1 1993, 47 (1) p106-
11, ISSN 0148- 7299 Journal Code: 3L4
Multiple pterygium syndrome with body asymmetry.
Willems PJ; Colpaert C; Vaerenbergh M; Van Thienen
MN;
Parizel PM; Van Marck E; Schuerwegh WH; Martin JJ
Department of Medical Genetics, University of Antwerp-U.I.A., Belgium.
We report on a fetus with multiple pterygia in the popliteal, antecubital,
intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly,
anal atresia, hypospadias, ambiguous genitalia, and neonatal death.
Arthrogryposis was much more pronounced at the left than at the
right side. Moreover, there was gross body asymmetry with hypoplasia
of the left arm, leg, pelvis, and kidney. As this spectrum of anomalies
does not fit any of the known multiple pterygium syndromes, this
patient adds another clinical entity to the already wide spectrum
of multiple pterygium syndromes.
[back to list]
08662815
93372815
Hum Mol Genet (ENGLAND) Jul 1993, 2 (7) p1067- 8, ISSN
0964- 6906 Journal Code: BRC
A novel nonsense mutation, W846XI (amber
termination), in exon 14a of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene.
Cheadle JP; al-Jader LN; Meredith AL
Institute of Medical Genetics,
University of Wales College of Medicine,
Heath Park, Cardiff, UK.
Tags: Case Report; Female; Human; Support, Non-U.S. Gov't
Descriptors: *Cystic Fibrosis--Genetics--GE; *Membrane Proteins--Genetics
--GE; *Point Mutation; Adult; Arthrogryposis--Complications--CO;
Cystic Fibrosis--Complications--CO; DNA--Genetics--GE; Exons
CAS Registry No.: 0 (Membrane Proteins); 126880- 72- 6 (cystic fibrosis
transmembrane conductance regulator); 9007- 49- 2 (DNA)
Gene Symbol: CFTR
[back to list]
08660444
93370444
Am J Med Genet (UNITED STATES) Jan 1 1992, 42 (1) p140,
ISSN 0148- 7299 Journal Code: 3L4
Arthrogryposis multiplex congenita with
renal and hepatic abnormalities [letter]
Saraiva JM; Lemos C; Goncalves I; Mota HC; Carneiro
F
Tags: Case Report; Female; Human; Male
Descriptors: *Abnormalities, Multiple--Genetics--GE; *Arthrogryposis
--Genetics--GE; Arthrogryposis--Pathology--PA; Genes, Recessive;
Infant, Newborn; Kidney--Abnormalities--AB; Liver--Abnormalities--AB
[back to list]
08653782
93363782
J Vet Med Sci (JAPAN) Jun 1993, 55 (3) p515- 7, ISSN 0916-
7250 Journal Code: A27
Hydranencephaly in newborn calves in Zambia.
Schneebeli M; Inoue S; Madarame H
Galaunia Farms Ltd., University of Zambia, Lusaka.
Hydranencephaly without arthrogryposis was observed in three newborn
Holstein-Friesian calves, born during one week in a 400-cow dairy
herd in Zambia. The affected calves were blind and exhibited nystagmus
and depressed behavior. Akabane virus infection was suspected based
on the pathological findings and etiological data, however, we could
not determine the exact causative agent.
[back to list]
08645429
93355429
Teratology (UNITED STATES) Jul 1993, 48 (1) p59- 64, ISSN
0040- 3709 Journal Code: VM8
Evaluation of developmental toxicity of
coniine to rats and rabbits.
Forsyth CS; Frank AA
Interdisciplinary Toxicology Program, Oregon State University, Corvallis
97331.
Conium maculatum (poison hemlock, CM) is teratogenic in several
domestic species, presumably due to its piperidine alkaloids, including
coniine, which has been verified to be teratogenic in cattle. Coniine/CM
teratogenicity culminates in production of arthrogryposis. The purpose
of this study was to evaluate coniine-induced teratogenicity in
two laboratory animal species, Sprague-Dawley rats and New Zealand
white rabbits. Pregnant rats were given coniine (25 mg/kg body weight)
by oral gavage at 8-hour intervals on gestation days 16- 18. Pregnant
rabbits were given coniine (40 mg/kg body weight) by oral gavage
at 8-hour intervals on gestation days 20- 24. Rats were killed on
day 19 and rabbits on day 29. Fetuses were immediately removed,
weighed, and examined for external abnormalities. Alternate fetuses
were either stained for skeletal examinations with alizarin red-S
or fixed in Bouin's solution for visceral examination. Symptoms
of maternal intoxication due to coniine administration were observed
in both the rat and the rabbit, and higher doses were uniformly
lethal. Rabbits treated with coniine appeared to lose more weight
and eat less than controls, but there was no statistically significant
difference between groups. Fetal weights were significantly lower
in coniine-exposed rat and rabbit fetuses indicating fetotoxicity.
The only statistically significant treatment-related visceral or
skeletal malformation was a reduction of cranial ossification of
rabbit fetuses, probably related to maternal toxicity. Coniine-exposed
rabbit litters tended to be affected by arthrogryposis (no bony
deformities noted on skeletal exam) more than controls (2/6 vs.
0/9).
[back to list]
08644622
93354622
Mil Med (UNITED STATES) Jul 1993, 158 (7) p498- 9, ISSN
0026- 4075 Journal Code: N1A
Antepartum diagnosis of arthrogryposis
associated with trisomy 18.
Kopelman JN
Department of Obstetrics and Gynecology,
Madigan Army Medical Center,
Tacoma, WA 98431- 5418.
The discovery of a fetal abnormality during ultrasonography is a
widely acknowledged indication for genetic amniocentesis. We present
a case in which the early diagnosis of severe arthrogryposis led
to the diagnosis of trisomy 18.
[back to list]
08636852
93346852
J Hand Surg [Br] (SCOTLAND) Jun 1993, 18 (3) p304- 7, ISSN
0266- 7681 Journal Code: IRE
Early corrective surgery of the wrist and
elbow in arthrogryposis multiplex congenita.
Mennen U
An early one-stage corrective surgical procedure for the elbow and
wrist of patients suffering from arthrogryposis multiplex congenita
is advocated. The procedure involves adequate proximal row carpectomy,
tendon transfers to achieve a balanced wrist and a triceps to radius
transfer for elbow flexion. Experience with 47 limbs showed that
the best results were obtained in children operated on between 3
and 6 months of age.
[back to list]
08631980
93341980
Prenat Diagn (ENGLAND) May 1993, 13 (5) p411- 6, ISSN 0197-
3851 Journal Code: PJ7
Early prenatal sonographic diagnosis of
neuropathic arthrogryposis multiplex congenita with osseous heterotopia.
Gullino E; Abrate M; Zerbino E; Bricchi G; Rattazzi
PD
Department of Genetics, Hospital USSL 61, Savigliano (Cuneo), Italy.
A prenatal diagnosis of arthrogryposis multiplex congenita (AMC)
has been carried out on a 19-week-old fetus by means of echography.
The ultrasonographic characteristics were unnatural position of
the four limbs associated with articular anomalies together with
absence of active fetal movements. A therapeutic interruption of
pregnancy was performed and the diagnosis was confirmed. At autopsy,
architectural disorder of the motor neurons of the anterior medullary
horn revealed a neuropathic pathogenesis of the arthrogryposis.
Moreover, at the lumbar level the spinal cord was progressively
replaced by heterotopic bony tissue which caused a more severe deformity
of the lower limbs compared with the upper. The aspects of anatomo-pathological,
genetic, and differential diagnosis are discussed showing the precocity
of the prenatal diagnosis and the peculiarity of the aetiology of
our case.
[back to list]
08601217
93311217
Acta Orthop Scand (DENMARK) Jun 1993,
64 (3) p357- 61, ISSN 0001- 6470 Journal Code: 1GO
Muscle ultrasonography in arthrogryposis.
Comparison with clinical, neuromyographic and histologic findings
in 41 cases.
Sodergard JM; Jaaskelainen JJ; Ryoppy SA
Department of Surgery and Orthopedics,
Children's Hospital,
Helsinki University Hospital,
Finland.
We studied the ultrasonographic appearance of muscles in 41 patients
with arthrogryposis multiplex congenita (AMC). The observations
were compared to the findings in clinical testing, electroneuromyography,
and histological examination. The strength of the muscles in AMC-patients
did not always correspond to the ultrasonographic morphology of
the muscles. In extension contractures of the elbow and in equinovarus
adductus deformities of the foot there was a distribution of pathological
changes in the muscles corresponding to the primary deformity. The
sound transfer through the muscles was decreased, notably in the
neurogenic form of AMC. Ultrasonography is an important complement
to the clinical examination and it should always be done prior to
surgery and muscle biopsy.
Languages:
[back to list]
08549529
93259529
Foot Ankle (UNITED STATES) Mar-Apr 1993, 14 (3) p117- 22,
ISSN 0198- 0211 Journal Code: F3X
Use of tissue expansion in clubfoot surgery.
Silver L; Grant AD; Atar D; Lehman WB
Beth Israel Medical Center, New York, New York.
Tissue expansion was used successfully to prepare adequate soft
tissue for closure following a difficult clubfoot correction. The
gradual expansion was done weekly at the outpatient clinics (average
3- 4 months). The procedure proved to be useful in severe cases
of clubfoot.
[back to list]
08536791
93246791
J Neurol Neurosurg Psychiatry (ENGLAND) Apr 1993, 56 (4)
p365- 8, ISSN 0022- 3050 Journal Code: JBB
Congenital cervical spinal muscular atrophy:
a non-familial, non progressive condition of the upper limbs.
Hageman G; Ramaekers VT; Hilhorst BG; Rozeboom
AR
Department of Neurology,
Medical Spectrum Twente Hospital Enschede,
The Netherlands.
Two patients with congenital cervical spinal muscular atrophy had
symmetrical severe muscle weakness and wasting confined to the upper
limbs, areflexia and congenital contractures. The shoulders were
internally rotated, elbows extended and wrists flexed. There were
no sensory or bulbar symptoms, scoliosis, long tract signs or lower
limb involvement. This condition should be regarded as a neurogenic
type of arthrogryposis, limited to the upper limbs
[back to list]
08498680
93208680
Vet Clin North Am Food Anim Pract (UNITED STATES) Mar 1993,
9 (1) p93- 104, ISSN 0749- 0720 Journal Code: CFP
Congenital defects of the bovine musculoskeletal
system and joints.
Leipold HW; Hiraga T; Dennis SM
Department of Pathology,
Kansas State University College of Veterinary Medicine, Manhattan.
A variety of structural and functional congenital defects affecting
the central nervous system of cattle have been identified. This
article discusses specific defects of the central nervous system.
Spastic and paralytic, metabolic, and storage diseases are reviewed.
(68 Refs.)
[back to list]
08498675
93208675
Vet Clin North Am Food Anim Pract (UNITED STATES) Mar 1993,
9 (1) p33- 40, ISSN 0749- 0720 Journal Code: CFP
Quinolizidine and piperidine alkaloid teratogens
from poisonous plants and their mechanism of action in animals.
Panter KE; Keeler RF
United States Department of Agriculture,
Poisonous Plant Research Laboratory,
Logan, Utah.
Quinolizidine and piperidine alkaloid teratogens from Lupinus, Conium,
and Nicotiana genera have been identified as causes of birth defects
in livestock induced by poisonous plants. Many defects now known
to be related to poisonous plant ingestion were once thought to
have a genetic origin. This supposition delayed diagnosis, reporting,
and understanding of such birth defects, because breeders and producers
feared the news would make it difficult to sell breeding stock.
Defects caused by quinolizidine and piperidine teratogens include
cleft palate and contracture-type skeletal defects such as arthrogryposis,
scoliosis, torticollis, and kyphosis. Teratogens have been identified,
differences in susceptibility to teratogenic compounds among livestock
species have been elucidated, periods of gestation when specific
types of birth defects occur have been determined, and information
about mechanism of action has been developed. (38 Refs.)
[back to list]
08497479
93207479
Aust Vet J (AUSTRALIA) Feb 1993, 70 (2) p56- 8, ISSN 0005-
0423 Journal Code: 9IE
An outbreak of Akabane virus-induced abnormalities
in calves after agistment in an endemic region.
Jagoe S; Kirkland PD; Harper PA
Rural Lands Protection Board, Bega, New South Wales.
During 1988, 2 farmers in the Bega district agisted pregnant cattle
in the Hunter Valley of New South Wales. On return to the district
to calve, 54% of calves from herd 1 and 30% of calves from herd
2 were affected with congenital arthrogryposis or hydranencephaly
caused by Akabane virus infection. Field observations and laboratory
findings from this outbreak are presented, illustrating the danger
of moving immunologically naive animals into areas where Akabane
virus is endemic.
[back to list]
08483360
93193360
Clin Orthop (UNITED STATES) Feb 1993, (287) p187- 92, ISSN
0009- 921X Journal Code: DFY
Congenital dislocation of the knee. Its
pathologic features and treatment.
Ooishi T; Sugioka Y; Matsumoto S; Fujii T
Department of Orthopaedic Surgery,
Faculty of Medicine, Kyushu University,
Fukuoka, Japan.
Arthrograms and operative findings of 19 patients with 26 congenital
dislocations of the knee (CDK) were reviewed to clarify the pathologic
features, methods of treatment, and the optimum treatment for the
patient with multiple joint deformities. The fundamental pathologic
features in CDK involved a shortening of the quadriceps femoris
tendon, a tight anterior articular capsule, and hypoplasia of the
suprapatellar bursa. Valgus deformity of the knee, which was observed
in half of the patients, was caused by the fragility of the medial
components of the knee. This fragility was attributable to the forward
displacement of the tibial insertion of the medial components. Arthrograms
served as effective indicators when evaluating the pathologic features
and determining the applicability of surgical therapy. There were
limits to conservative therapy that were dependent on the extent
of the pathologic changes. In extremely refractory patients with
arthrogryposis multiplex congenita (AMC), an elimination of genu
recurvatum and an improved range of movement could be obtained by
the use of surgery. The valgus deformity was significantly reduced
by invasive treatment that reinforced the fragile inner components.
Experience with nine patients with multiple lower-limb joint deformities
indicates that the knee dislocation should be treated before any
of the other deformities.
[back to list]
08475728
93185728
Eur J Pediatr (GERMANY) Feb 1993, 152 (2) p95- 8, ISSN
0340- 6199 Journal Code: END
Restrictive dermopathy: a lethal congenital
skin disorder.
Hoffmann R; Lohner M; Bohm N; Leititis J; Helwig
H
Institute of Pathology, Paediatric Pathology Section,
Freiburg, Federal Republic of Germany.
Restrictive dermopathy is a recently described lethal congenital
disorder of the skin with an autosomal recessive mode of inheritance.
The rigidity of the skin impairs fetal movements in utero and causes
arthrogryposis, as well as highly characteristic facial features
and pulmonary hypoplasia. We report two cases of restrictive dermopathy
in prematurely born infants, describe the typical pathological findings
and discuss this disorder in the context of the fetal akinesia/hypokinesia
deformation sequence.
Languages:
[back to list]
08467982
93177982
Clin Neuropathol (GERMANY) Jan-Feb 1993, 12 (1) p25- 33,
ISSN 0722- 5091 Journal Code: DFM
Arthrogryposis multiplex congenita with
posterior column degeneration and peripheral neuropathy: a case
report.
Folkerth RD; Guttentag SH; Kupsky WJ; Kinney HC
Department of Pathology, Children's Hospital,
Boston, Massachusetts.
Congenital sensory neuropathies associated with
arthrogryposis multiplex congenita (AMC) are rare. We report a unique
case of a nine-week-old, full-term infant with AMC, congenital sensory
neuropathy, and posterior column degeneration. The family history
was negative for neuromuscular disease. At birth, the infant was
small for gestational age, indicative of intrauterine growth retardation.
He was hypotonic and hyporeflexic, and failed to sustain respiration.
He remained ventilator-dependent throughout his life. Electrodiagnostic
studies indicated widespread peripheral neuropathy. At two weeks
of age, biopsied sural nerve was almost completely devoid of myelinated
axons; quadriceps skeletal muscle contained only mild and nonspecific
abnormalities. Autopsy showed pulmonary hypoplasia. The major nervous
system findings were severe, bilateral posterior column degeneration,
mild posterior horn gliosis, atrophy of posterior roots, and axonal
degeneration of the peripheral nerves. Sensory and autonomic (vagal)
nerves were preferentially involved, with relative sparing of motor
nerves. This case suggests that interruption of kinesthetic pathways
early in gestation may result in fixed joints.
Languages:
[back to list]
08455602
93165602
Prenat Diagn (ENGLAND) Dec 1992, 12 (12) p1047- 53, ISSN
0197- 3851 Journal Code: PJ7
Prenatal diagnosis of distal arthrogryposis
type I by ultrasonography.
Bui TH; Lindholm H; Demir N; Thomassen P
Department of Clinical Genetics, Karolinska Hospital, Stockholm,
Sweden.
Two consecutive pregnancies in a woman with initially undiagnosed
type I distal arthrogryposis (DA) are reported. A prenatal diagnosis
of the condition was made by ultrasound in the 17th week of gestation
in one of the pregnancies, whereas in the subsequent pregnancy the
disorder was excluded as early as 13 weeks' gestation. The diagnoses
were verified at birth. The feasibility of prenatal diagnosis of
DA type I in the second trimester is thus confirmed and its possibility
in the late first trimester is suggested.
[back to list]
08454028
93164028
J Pediatr Ophthalmol Strabismus (UNITED STATES) Nov-Dec
1992, 29 (6) p370- 3, ISSN 0191- 3913 Journal Code: JMI
Multiple congenital contractures (arthrogryposis)
in association with Peters' anomaly and chorioretinal colobomata.
Sullivan TJ; Clarke MP; Heathcote JG; Hunter WS;
Rootman DS; Morin JD
Department of Ophthalmology,
Hospital for Sick Children,
Toronto, Ontario, Canada.
Tags: Case Report; Female; Human; Male; Support, Non-U.S. Gov't
Descriptors: *Arthrogryposis; *Choroid--Abnormalities--AB; *Coloboma;
*Corneal Diseases; *Iris Diseases; *Retina--Abnormalities--AB; Abnormalities,
Multiple; Anterior Chamber; Contracture; Infant, Newborn; Pregnancy
[back to list]
08452737
93162737
Indian Pediatr (INDIA) Oct 1992, 29 (10) p1305- 9, ISSN
0019- 6061 Journal Code: GM2
Lethal multiple pterygium syndrome.
Lakshminarayana P; Jegatheesan T; Venkataraman
P
Department of Medical Genetics, Madras Medical College.
Tags: Case Report; Human; Male
Descriptors: *Arthrogryposis; *Pterygium; Arthrogryposis--Diagnosis--DI;
Infant; Infant, Newborn; Phenotype; Pterygium--Diagnosis--DI; Syndrome
Languages:
[back to list]
08432812
93142812
Am J Med Genet (UNITED STATES) Oct 1 1992, 44 (3) p391,
ISSN 0148- 7299 Journal Code: 3L4
Distal arthrogryposis, mental retardation, whistling face,
and Pierre Robin sequence: another case [letter; comment]
Di Rocco M; Erriu MI; Lignana E
Comment on Am J Med Genet 1991 Mar 15;38(4):557- 61
Tags: Case Report; Human; Male
Descriptors: *Arthrogryposis--Diagnosis--DI; *Pierre Robin Syndrome
--Diagnosis--DI; Infant
08430151
93140151
J Med Genet (ENGLAND) Jan 1993, 30 (1) p78- 80, ISSN 0022-
2593 Journal Code: J1F
Arthrogryposis, ophthalmoplegia, and retinopathy:
confirmation of a new type of arthrogryposis.
Schrander-Stumpel CT; Howeler CJ; Reekers AD;
De Smet NM; Hall JG; Fryns JP
Department of Clinical Genetics,
Academic Hospital,
Maastricht, The Netherlands.
Arthrogryposis multiplex congenita is a heterogeneous condition
and many different types are clinically recognisable. Recently,
a new type of autosomal dominant arthrogryposis was described in
a father and son. We report on a male patient with similar clinical
features, confirming this distinct type of arthrogryposis. The condition
is characterised by congenital contractures of the hands and feet
with diminished or absent phalangeal creases, ophthalmoplegia, a
rigid trunk, deep set eyes, and (in the oldest patient) an abnormal
electroretinogram. Differential diagnosis from amyoplasia, the different
types of distal arthrogryposis, and symphalangism is discussed.
(9 Refs.)
[back to list]
08420101
93130101
Neuromuscul Disord (ENGLAND) 1992, 2 (4) p277- 83, ISSN
0960- 8966 Journal Code: BJS
A large inbred Palestinian family with
two forms of muscular dystrophy.
Mahjneh I; Vannelli G; Bushby K; Marconi GP
Department of Neurological Science, University of Florence, Italy.
This paper reports the results of a clinical, genetic and histopathological
study of 19 patients belonging to a large inbred Palestinian family
living in Um-El-Fahem, a town located in Israel, which is solely
inhabited by Arabs. Their custom of marrying only among relatives
has kept the genetic homogeneity of the families intact. There were
ten cases of congenital muscular dystrophy (CMD) and nine cases
of adult limb-girdle muscular dystrophy (LGMD) belonging to two
generations of the same family. Both forms showed autosomal recessive
inheritance. The patients with congenital muscular dystrophy had
generalized muscular weakness and hypotonia at birth without arthrogryposis
or CNS involvement and then had a relatively benign evolution with
stabilization of the clinical picture at different ages and variable
degree of severity. Muscle biopsy showed a dystrophic pattern. The
other nine patients presented with the picture of adult limb-girdle
muscular dystrophy but with an unusual tendency to the stabilization
of symptoms.
[back to list]
08418325
93128325
Am J Med Genet (UNITED STATES) Dec 1 1992, 44 (6) p757-
61, ISSN 0148- 7299 Journal Code: 3L4
New hereditary malformation syndrome of
unusual facial appearance, skeletal deformities, and musculoskeletal
and sensory defects.
Middleton LT; Anastasiades V; Panayidou K;
Georghiou D; Kalli E; Gabriel G; Myrianthopoulos NC
Cyprus Institute of Neurology and Genetics, Nicosia.
We report on a new syndrome characterized by specific and striking
facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular
and sensory defects in a large Greek Cypriot family. The hereditary
transmission appears to be autosomal dominant with quite variable
expressivity.
[back to list]
08409887
93119887
Br J Dermatol (ENGLAND) Dec 1992, 127 (6) p630- 4, ISSN
0007- 0963 Journal Code: AW0
Restrictive dermopathy: a disorder of fibroblasts.
Paige DG; Lake BD; Bailey AJ; Ramani P; Harper
JI
Department of Dermatology, Hospital for Sick Children, London, U.K.
Restrictive dermopathy is a rare, lethal genodermatosis, characterized
by a thin, tightly adherent skin which causes a dysmorphic facies,
arthrogryposis and respiratory insufficiency. The recorded cases
to date show a remarkable phenotypic similarity. Thinning of the
dermis and the arrangement of collagen in parallel bundles appear
to be constant findings. We have found many dead and degenerating
fibroblasts in the dermis on ultrastructural examination, and have
demonstrated their poor growth in vitro. Studies of collagen from
a skin sample showed a marked increase in mature cross-links, indicating
a decrease in skin collagen turnover. These findings suggest a primary
disorder of fibroblasts, and may explain the apparent arrest in
growth and differentiation of the skin which appears to be important
in the pathogenesis of this rare condition. (19 Refs.)
[back to list]
08397597
93107597
J Child Neurol (UNITED STATES) Oct 1992, 7 (4) p387- 91,
ISSN 0883- 0738 Journal Code: IA2
Predictive value of electromyography in
diagnosis and prognosis of the hypotonic infant.
Russell JW; Afifi AK; Ross MA
Department of Neurology, Faculty of Medicine, University of Iowa,
Iowa City.
To investigate the diagnostic validity of electromyography in the
hypotonic infant, 79 children aged 0 to 12 months, seen over a 20-year
period, were studied retrospectively. The diagnoses using clinical,
muscle biopsy, and laboratory characteristics were: 25 central hypotonia,
20 spinal muscular atrophy, 20 myopathy, four myotonic dystrophy,
four benign congenital hypotonia, two congenital muscular dystrophy,
two myasthenia gravis, one infantile inflammatory myopathy, and
one arthrogryposis multiplex congenita. Using strict criteria, electromyography
accurately predicted the final diagnosis in 65% of infants with
spinal muscular atrophy and was consistent with the diagnosis in
another 25%. In contrast, electromyography accurately predicted
the final diagnosis in only 10% of infants with myopathy and was
normal in 88% of infants with central hypotonia. In infants with
spinal muscular atrophy, there was no difference in the predictive
value of electromyography when performed in the newborn compared
to older infants. Normal distal nerve conduction velocities in infants
with spinal muscular atrophy may predict prognosis, since these
infants had a longer survival. Electromyography thus has a high
predictive value for infantile spinal muscular atrophy but not for
myopathy.
[back to list]
08379452
93089452
Brain Dev (JAPAN) Sep 1992, 14 (5) p334- 7, ISSN 0387- 7604
Journal Code: 35J
Clinical variation within sibships in Fukuyama-type
congenital muscular dystrophy.
Yoshioka M; Kuroki S; Nigami H; Kawai T; Nakamura
H
Department of Pediatrics, Kobe General Hospital, Japan.
A family in which three siblings were affected
with severe cerebral malformations in association with ocular anomalies
and muscle disease is reported. One sibling was diagnosed as having
Fukuyama type congenital muscular dystrophy (FCMD) because he showed
severe hypotonia with dystrophic findings on a muscle biopsy in
addition to pachygyria on CT. At the age of 3 years, retinal detachment
developed in both eyes. Another sibling exhibited at birth such
characteristic features as pachygyria, cephalocele, hydrocephalus,
retinal detachment in both eyes, elevated serum creatine kinase
activity and arthrogryposis multiplex congenita. We consider these
findings to be more consistent with Walker-Warburg syndrome (WWS)
than with FCMD. Anencephaly found in the third sibling was regarded
as WWS with extreme brain abnormality. The appearance of two syndromes
(FCMD and WWS) in the three members of the same family suggests
that these syndromes could be allelic with variable phenotypes.
Languages:
[back to list]
08376743
93086743
Neuropediatrics (GERMANY) Oct 1992, 23 (5) p260- 2, ISSN
0174- 304X Journal Code: NZA
Congenital caudal spinal atrophy: a case
report.
Tsukamoto H; Inagaki M; Tomita Y; Ohno K
Division of Child Neurology,
Tottori University Faculty of Medicine,
Yonago, Japan.
An infant presented at birth with symmetrical flaccid
paraparesis limited to lower legs and feet, and involving the proximal
and distal muscle group. Limitation of the ankle joints was noticed.
There were no sensory deficits to painful stimuli and no evidence
of loss of sphincter control. Muscle CT revealed severe muscle atrophy
in the pelvis and lower limbs, and electromyographic study of the
bilateral hamstrings showed polyphasic giant potentials. Motor and
sensory nerve conduction velocities were within normal limits, and
the spinal MRI showed no structural abnormalities in the cord and
the lower spine. These features suggest a congenital segmental abnormality
at the anterior horn cell level in the lumbosacral spinal cord,
which we propose to call "congenital caudal spinal atrophy."
Languages:
[back to list]
08367628
93077628
J Bone Joint Surg Br (ENGLAND) Nov 1992, 74 (6) p902- 5, ISSN
0301- 620X Journal Code: HK7
Ehlers-Danlos syndrome with soft-tissue
contractures.
Hamada S; Hiroshima K; Oshita S; Doi T; Ono K
Department of Orthopaedic Surgery, Osaka Rosai Hospital, Japan.
We report four patients with a form of Ehlers-Danlos syndrome associated
with soft-tissue contractures from birth and skin hyperalgesia.
In early infancy, these cases were thought to be forms of arthrogryposis
multiplex congenita, Larsen's syndrome or Marfan's syndrome. The
characteristic triad of signs of Ehlers-Danlos disease gradually
appeared from four to six years of age, allowing us to establish
the correct diagnosis. We discuss the differential diagnosis of
these connective-tissue disorders and the problems of the orthopaedic
treatment of the associated joint deformities. Ehlers-Danlos syndrome
is a heterogeneous group of metabolic diseases of collagen and our
cases constitute a group which is distinct from the conventional
types.
[back to list]
08358658
93068658
Spec Care Dentist (UNITED STATES) May-Jun 1992, 12 (3) p122-
4, ISSN 0275- 1879 Journal Code: U99
The use of vacuum-molded polyvinyl acetate-polyethylene
copolymer (PVAC.PE) for a handicapped patient.
Nunn JH; Wood I
The Dental School, Newcastle-upon-Tyne, England.
This paper provides a survey of recent literature on the use of
mouth sticks for patients who have little or no use of their limbs.
Criteria for mouth stick design, types of appliances, and the fabrication
of such devices are described. Details are given of a case of a
young child with arthrogryposis multiplex congenita, in whom a novel
approach was used to allow the safe intra-oral retention of writing
implements.
[back to list]
08314216
93024216
Mo Med (UNITED STATES) Sep 1992, 89 (9) p671- 4, ISSN 0026-
6620 Journal Code: NEW
Skin expansion as preparation for an opening
wedge osteotomy of the mid-foot in arthrogryposis.
Buebendorf ND; Concannon MJ; Gaines RW; Puckett
CL
Division of Plastic & Reconstructive Surgery,
University of Missouri Health Sciences Center,
Columbia 65212.
A case report is presented in which tissue expansion is used to
provide the additional skin needed during an opening wedge mid-foot
osteotomy to correct a varus foot deformity in a patient with arthrogryposis
multiplex congenita. Tissue expansion is a relatively new method
of acquiring coverage for wounds which may have advantages over
previous techniques. The risks and drawbacks of this technique will
be described in detail.
[back to list]
08290063
93000063
Pediatr Neurol (UNITED STATES) Jul-Aug 1992, 8 (4) p285- 8,
ISSN 0887- 8994 Journal Code: AA5
Clinical features for prediction of survival
in neonatal muscle disease.
Connolly MB; Roland EH; Hill A
Department of Pediatrics,
University of British Columbia,
British Columbia's Children's Hospital,
Vancouver, Canada.
Review of 17 newborns with muscle disease demonstrated that clinical
features associated with survival beyond 1 year of age included
gestational age of at least 35 weeks and requirement of mechanical
ventilation for less than 21 days. In contrast, poor outcome was
associated with Apgar scores below 5 at 5 min, pulmonary complications,
arthrogryposis, or other congenital anomalies. The incidence of
decreased fetal movements, polyhydramnios, hypotonia, and assisted
delivery was not statistically different between infants who died
early and those who survived beyond 1 year of age. Clinical features
of newborns with muscle disease may be useful for prediction of
outcome, especially when muscle biopsy abnormalities are nonspecific.
[back to list]
08244875
92382875
Ophthalmologica (SWITZERLAND) 1992, 204 (4) p210- 4, ISSN 0030-
3755
Journal Code: OIG
Goniodysgenesis of the eye with arthrogryposis
multiplex congenita.
Sakamoto T; Tawara A; Inomata H
Department of Ophthalmology,
Faculty of Medicine,
Kyushu University,
Fukuoka, Japan.
We report an autopsy case of 4-day-old male infant
with arthrogryposis multiplex congenita studied by histological
methods in respect to the ocular tissues. The eye examined was normal
in size, and the retina, optic nerve, choroid, sclera and extracocular
muscle showed no remarkable histological changes. However, the cornea
was thickened, and the iris, trabecular tissue and ciliary body
showed maldevelopmental changes, which were all compatible with
goniodysgenesis. The clinical data of this case did not demonstrate
any signs of congenital glaucoma, but the present study indicates
that an infant with arthrogryposis multiplex congenita has a potential
for infantile glaucoma with goniodysgenesis.
Languages:
08228194 92366194
Orthop Nurs (UNITED STATES) Jul-Aug 1992, 11 (4) p26- 30, ISSN
0744- 6020 Journal Code: ORN
Transportation resources for pediatric
orthopaedic clients.
Stout JD; Bandy P; Feller N; Stroup KB; Bull MJ
Pediatric orthopaedic surgery clients may be unable to safely, comfortably,
and affordably use child safety seats (car seats) for a variety
of reasons. This article describes commercially available child
safety seats suitable for transporting pediatric orthopaedic surgery
clients. Discussed are those children with cerebral palsy, spina
bifida, hip dislocations, arthrogryposis, scoliosis, and osteogenesis
imperfecta. Tags: Case Report; Female; Human; Support, Non-U.S.
Gov't
[back to list]
08206354 92344354
Ann Neurol (UNITED STATES) Mar 1992, 31 (3) p337- 40, ISSN
0364- 5134 Journal Code: 6AE
Congenital hypomyelination neuropathy with
arthrogryposis multiplex congenita.
Boylan KB; Ferriero DM; Greco CM; Sheldon RA;
Dew M
Department of Neurology, Johns Hopkins University, Baltimore.
A term male infant is described with an isolated disorder of peripheral
myelination. At necropsy, the great majority of medium-to-large
axons were unmyelinated. Electron microscopy showed normal axons
and redundant lamination of basement membrane, suggestive of early
onion bulb pathology. Immunohistochemistry of peripheral nerve showed
deficiency of the myelin proteins P2 and Po, myelin basic protein,
and myelin-associated glycoprotein. Arrest of peripheral myelination
at the promyelin stage appears to be the origin of myelin deficiency.
[back to list]
08158202 92296202
Am J Med Genet (UNITED STATES) Jun 1 1992, 43 (3) p539- 47,
ISSN 0148- 7299 Journal Code: 3L4
Restrictive dermopathy, a lethal form of
arthrogryposis multiplex with skin and bone dysplasias: three new
cases and review of the literature.
Verloes A; Mulliez N; Gonzales M; Laloux F;
Hermanns-Le T; Pierard GE; Koulischer L
Centre for Human Genetics, Liege University, Belgium.
Restrictive dermopathy is a rare, lethal autosomal recessive syndrome.
We report on 3 unrelated affected stillborn infants of consanguineous
parents. Clinical findings include a tight, thin, translucent, taut
skin, which tears spontaneously in flexion creases, arthrogryposis
multiplex congenita (including the temporomandibular joint), enlarged
fontanelles, typical face and dysplasia of clavicles and long bones.
Histologic abnormalities include hyperplastic, abnormally keratinized
epidermis, reduced tonofilaments, thin, compact dermis with hypoplasia
of the elastic fibres, and abnormal subcutaneous fat. Fifteen previous
cases are reviewed. (19 Refs.)
[back to list]
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