De Paillette L, Aicardi J, Goutières F
Department of Paediatrics, Hôpital des Enfants Malades, Paris, France.
J Neurol. 1989 Feb;236(2):108-10. doi: 10.1007/BF00314406.
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.
报告了一名患有乌利希氏张力缺乏性硬化性肌营养不良症的5岁女孩，并对之前报告的16例病例进行了回顾。其临床特征，特别是近端挛缩、远端关节过度伸展、轻度畸形和多汗症，有助于识别这种先天性肌营养不良症的亚型，该亚型没有特定的病理特征。有证据支持常染色体隐性遗传模式。
