MICROCEPHALY, LYMPHEDEMA, AND CHORIORETINAL DYSPLASIA - A DISTINCT SYNDROME

被引：33

作者：

FEINGOLD, M

BARTOSHESKY, L

机构：

[1] BOSTON UNIV,SCH MED,BOSTON,MA 02118

[2] THOMAS JEFFERSON UNIV,PEDIAT,PHILADELPHIA,PA 19107

[3] MED CTR DELAWARE,DEPT PEDIAT,WILMINGTON,DE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 06期

关键词：

DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CONGENITAL ABNORMALITIES;

D O I：

10.1002/ajmg.1320430623

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on 2 unrelated patients with microcephaly, lymphedema, and chorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity.

引用

页码：1030 / 1031

页数：2

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