腘窝翼状胬肉综合征：表型与遗传学分析

J Med Genet. 1978 Feb;15(1):35-42. doi: 10.1136/jmg.15.1.35.

Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the ones reported here, evidence is presented that supports an autosomal dominant mode of inheritance for this syndrome. Analysis of previous familial cases showed a large degree of between and within-family variation. The segregation analysis supports the dominant hypothesis (P=0.5).

本文报告了另外两个患有腘窝翼状胬肉综合征的家族。利用先前发表的系谱以及本文所报告的系谱，提供了支持该综合征常染色体显性遗传模式的证据。对既往家族病例的分析显示，家族间和家族内存在很大程度的变异。分离分析支持显性假说（P = 0.5）。