Reichenbach H, Hörmann D, Theile H
Abteilung Humangenetik, Universitäts-Kinderklinik.
Kinderarztl Prax. 1993 Mar;61(2):59-62.
Brachydactyly is classified into 5 main types. In type A brachydactylies the shortening is mainly confined to the middle phalanges of the digits and toes. Brachydactyly type A4 is characterised by brachymesophalangy II and V. We found this rare type of brachydactyly in a child and his mother. We examined the hands and feet of these individuals radiologically. The reported malformation had affected members of 2 respectively 3 generations. There is no doubt about the autosomal dominant mode of inheritance.
短指症分为5种主要类型。在A型短指症中，指骨缩短主要局限于手指和脚趾的中节指骨。A4型短指症的特征是第二和第五中节指骨短小。我们在一名儿童及其母亲身上发现了这种罕见的短指症类型。我们对这些个体的手和脚进行了放射学检查。所报道的畸形分别影响了两代或三代人。毫无疑问，其遗传方式为常染色体显性遗传。
