Two brothers with deafness, femoral epiphyseal dysplasia, short stature and developmental delay

被引：2

作者：

Chitty, LS

Hall, CM

Baraitser, M

机构：

[1] HOSP SICK CHILDREN,DEPT CLIN GENET,LONDON WC1N 3JH,ENGLAND

[2] HOSP SICK CHILDREN,DEPT RADIOL,LONDON WC1N 3JH,ENGLAND

来源：

CLINICAL DYSMORPHOLOGY | 1996年 / 5卷 / 01期

关键词：

Perthes' disease; sensorineural deafness; short stature;

D O I：

10.1097/00019605-199601000-00003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Two brothers whose parents are second cousins have short stature, femoral epiphyseal dysplasia, umbilical and inguinal herniae, sensorineural deafness and developmental delay. Both are facially dysmorphic in that the face is triangular in shape with a pointed chin when viewed from the front.

引用

页码：17 / 25

页数：9