Cleft lip and cone-rod dystrophy in a consanguineous sibship

被引：0
作者：
Ausems, MGEM
WittebolPost, D
Hennekam, RCM
机构：
[1] ACAD HOSP,DEPT OPHTHALMOL,UTRECHT,NETHERLANDS
[2] ACAD MED CTR,INST HUMAN GENET,AMSTERDAM,NETHERLANDS
[3] ACAD MED CTR,DEPT PEDIAT,AMSTERDAM,NETHERLANDS
来源：
CLINICAL DYSMORPHOLOGY | 1996年 / 5卷 / 04期
关键词：
cone-rod dystrophy; retinopathy; cleft lip; autosomal recessive inheritance;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Three siblings from a consanguineous marriage were found to have a cleft lip. Two of them developed a progressive retinopathy which was identified as a cone-rod dystrophy. It is suggested that this association may represent a hitherto unreported entity with an autosomal recessive pattern of inheritance, although chance cooccurrence cannot be excluded.
引用
收藏
页码：307 / 311
页数：5
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