FAMILIAL HOLOPROSENCEPHALY, HEART-DEFECTS, AND POLYDACTYLY

被引：20

作者：

HENNEKAM, RCM ^{[1
]}

VANNOORT, G ^{[1
]}

DELAFUENTE, AA ^{[1
]}

机构：

[1] STREEKLAB PATHOL,ENSCHEDE,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 02期

关键词：

POSTAXIAL POLYDACTYLY; CLEFT LIP PALATE; CARDIAC DEFECT; AUTOSOMAL RECESSIVE INHERITANCE; HYDROLETHALUS SYNDROME; PSEUDOTRISOMY; 13; SYNDROME;

D O I：

10.1002/ajmg.1320410226

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe a pair of sibs with microcephaly, hypoplastic nose, cleft lip/palate, a complicated Fallot-like cardiac defect, and holoprosencephaly and polydactyly. One sib appeared to have normal chromosomes. The healthy parents were second cousins. This constellation of signs has been described before in at least 14 other patients, and was possibly present in several others. Although there is overlap with a number of similar conditions, especially hydrolethalus syndrome, this probably represents a separate entity. Three pairs of sibs and consanguinity in 3 families point to autosomal recessive pattern of inheritance.

引用

页码：258 / 262

页数：5

共 20 条

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