姐妹及同父异母姐妹中的缺指（趾）畸形

J Med Genet. 1987 Apr;24(4):220-4. doi: 10.1136/jmg.24.4.220.

An extended family is described in which four sisters and half sisters presented with ectrodactyly. Two of the sisters had associated agenesis of the tibiae. The paper describes the malformations and discusses the management and possible genetic inheritance involved. An autosomal recessive gene seems likely to be the mode of inheritance.

本文描述了一个大家庭，其中四姐妹和同父异母姐妹均患有缺指（趾）畸形。其中两名姐妹还伴有胫骨发育不全。本文描述了这些畸形，并讨论了其处理方法及可能涉及的遗传方式。常染色体隐性基因似乎是其遗传模式。