title: Ullrich's congenital atonic sclerotic muscular dystrophy. A case report.
abstract: A 5-year old girl with Ullrich's atonic-sclerotic muscular dystrophy is reported and 16 previously reported cases are reviewed. The clinical features, in particular proximal contractures, distal hyperextensibility, mild dysmorphism and hyperhidrosis, allow recognition of this subtype of congenital muscular dystrophy, which has no specific pathological characteristics. There is evidence in favour of an autosomal recessive mode of inheritance.
authors.affiliation: Department of Paediatrics, Hôpital des Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: De Paillette
authors.forename: J
authors.initials: J
authors.lastname: Aicardi
authors.forename: F
authors.initials: F
authors.lastname: Goutières
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000503:physiopathology