Arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, polydactyly and Hirschprung's disease.
نویسندگان
چکیده
A case of arthrogryposis multiplex congenita distal type II associated with facial abnormality, renal abnormality, postaxial poydactyly and Hirschprung's disease is described. It appears to be a new form of an autosomal recessive disorder.
منابع مشابه
Amyoplasia congenita associated with mongolism.
The rare condition known variously as multiple congenital articular rigidity, arthrogryposis multiplex congenita and amyoplasia congenita has been made known in this country mainly by the work of W. Sheldon9, who introduced the name used in this paper. A further title has been applied by D. S. Middleton', who uses the term myodystrophia foetalis deformans, as being more accurately descriptive o...
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OBJECTIVE Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULT...
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عنوان ژورنال:
- The Ceylon medical journal
دوره 46 4 شماره
صفحات -
تاریخ انتشار 2001