Borochowitz Z, Glick B, Blazer S
Genetics Institute, Bnai-Zion Medical Centre, Haifa, Israel.
J Med Genet. 1991 May;28(5):345-8. doi: 10.1136/jmg.28.5.345.
Acute infantile spinal muscular atrophy (SMA type I, Werdnig-Hoffmann disease) has generally been accepted as an autosomal recessive disorder. However, several investigators have noted a slightly increased male to female ratio. We describe here a family with two affected male sibs who had a form of acute infantile SMA with congenital bone fractures, whose parents were first cousins. Pedigree analysis strongly suggested autosomal recessive inheritance, but X linked recessive inheritance could not be ruled out. In view of the heterogeneity of the SMAs, and the distinct clinical features found in our patients, we suggest that their infantile SMA might well be a distinct entity. We suggest that SMA I with congenital contractures and bone fractures appears to be a recognisable disorder that can be distinguished from the more common classic form of SMA I.
急性婴儿型脊髓性肌萎缩症（I型，韦尼克 - 霍夫曼病）一般被认为是常染色体隐性疾病。然而，一些研究者注意到其男女比例略有上升。我们在此描述一个家庭，该家庭中有两个患病男性同胞，他们患有伴有先天性骨折的急性婴儿型脊髓性肌萎缩症，其父母是近亲。系谱分析强烈提示常染色体隐性遗传，但不能排除X连锁隐性遗传。鉴于脊髓性肌萎缩症的异质性以及我们患者中发现的独特临床特征，我们认为他们的婴儿型脊髓性肌萎缩症很可能是一种独特的病症。我们认为伴有先天性挛缩和骨折的I型脊髓性肌萎缩症似乎是一种可识别的疾病，可与更常见的经典I型脊髓性肌萎缩症相区分。
