HASPESLAGH SYNDROME WITHOUT SEVERE MENTAL-RETARDATION AND PTERYGIA

被引：0

作者：

VANBEVER, Y ^{[1
]}

HENNEKAM, RCM ^{[1
]}

机构：

[1] UNIV AMSTERDAM,ACAD MED CTR,DEPT PEDIAT,1105 AZ AMSTERDAM,NETHERLANDS

来源：

CLINICAL GENETICS | 1995年 / 47卷 / 05期

关键词：

ARACHNODACTYLY; AUTOSOMAL DOMINANT; HASPESLAGH SYNDROME; PHENOTYPE;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

An adult female is described with mild developmental delay, typical facies, dental anomalies, arachnodactyly and camptodactyly. In many respects she resembles four other patients described earlier; but differs in not having multiple pterygia, nor severe mental retardation. We suggest that this entity should be named Haspeslagh syndrome. The differential diagnosis is discussed.

引用

页码：263 / 266

页数：4

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