CAMPOMELIC DYSPLASIA - EVIDENCE OF AUTOSOMAL-DOMINANT INHERITANCE

被引：20

作者：

LYNCH, SA

GAUNT, ML

MINFORD, AMB

机构：

[1] LEEDS GEN INFIRM,DEPT GENET,LEEDS LS2 9NS,ENGLAND

[2] ST LUKES HOSP,DEPT RADIOL,BRADFORD BD5 0NA,ENGLAND

[3] ST LUKES HOSP,DEPT PAEDIAT,BRADFORD BD5 0NA,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 08期

关键词：

D O I：

10.1136/jmg.30.8.683

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.

引用

页码：683 / 686

页数：4

共 8 条

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