INTRAFAMILIAL VARIABILITY IN CLEIDOCRANIAL DYSPLASIA - A 3 GENERATION FAMILY

被引：42

作者：

CHITAYAT, D

HODGKINSON, KA

AZOUZ, EM

机构：

[1] MONTREAL CHILDRENS HOSP,DEPT RADIOL,MONTREAL H3H 1P3,QUEBEC,CANADA

[2] MCGILL UNIV,CTR HUMAN GENET,MONTREAL H3A 2T5,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 03期

关键词：

NEW MUTATION; FEEDING DIFFICULTIES; RESPIRATORY DISTRESS; WORMIAN BONE; CLAVICLE; PELVIS; CESAREAN SECTION; AUTOSOMAL DOMINANT; CLEIDOCRANIAL DYSPLASIA;

D O I：

10.1002/ajmg.1320420307

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a 3-generation family, ascertained after the birth of a child with cleidocranial dysplasia (CCD). The propositus presented with respiratory distress (due to a narrow thorax) and hypoplasia and discontinuity of both clavicles. The mother, aunt, and grandmother had varied features of the condition. This intrafamilial variation illustrates the need for clinical assessment of family members following the birth of an apparent sporadic case of CCD.

引用

页码：298 / 303

页数：6

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