POPLITEAL PTERYGIUM SYNDROME - PHENOTYPIC AND GENETIC-ANALYSIS

被引：38

作者：

ESCOBAR, V

WEAVER, D

机构：

[1] INDIANA UNIV,SCH MED,DEPT ORAL FACIAL GENET,INDIANAPOLIS,IN 46202

[2] INDIANA UNIV,SCH MED,DEPT MED GENET,INDIANAPOLIS,IN 46202

来源：

JOURNAL OF MEDICAL GENETICS | 1978年 / 15卷 / 01期

关键词：

D O I：

10.1136/jmg.15.1.35

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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).

引用

页码：35 / 42

页数：8

共 37 条

[1]

ABERLEHORSTENEG.W, 1937, Z ORTHOP, V67, P21

[2]

Bajaj P S, 1969, Br J Plast Surg, V22, P87, DOI 10.1016/S0007-1226(69)80096-2

[3] POPLITEAL PTERYGIUM SYNDROME - EVIDENCE FOR A SEVERE AUTOSOMAL RECESSIVE FORM [J].