常染色体显性遗传性甲营养不良伴无甲症，合并B型短指（趾）畸形和缺指（趾）畸形。
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly.
作者信息
Kumar D, Levick R K
出版信息
Clin Genet. 1986 Sep;30(3):219-25. doi: 10.1111/j.1399-0004.1986.tb00598.x.
Abstract
A family is reported with nail dysplasia and/or absent nails, long and broad finger-like thumbs, camptodactyly and absent fingers. Radiological studies revealed hypoplasia of metacarpals, metatarsals and distal phalanges. Two affected individuals have absent metacarpals and phalanges. The clinical and radiological features may constitute a distinct syndrome of autosomal dominant onychodystrophy and anonychia with Julia Bell brachydactyly type B.
摘要
报道了一个患有指甲发育异常和/或无指甲、长而宽的手指样拇指、屈曲指和手指缺如的家系。放射学研究显示掌骨、跖骨和远端指骨发育不全。两名受累个体存在掌骨和指骨缺如。临床和放射学特征可能构成一种独特的常染色体显性遗传性甲营养不良和无甲症综合征，并伴有朱莉娅·贝尔B型短指症。
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