MICROCEPHALY, LYMPHEDEMA, AND CHORIORETINAL DYSPLASIA - REPORT OF 2 ADDITIONAL CASES

被引：18

作者：

ANGLE, B

HOLGADO, S

BURTON, BK

MILLER, MT

SHAPIRO, MJ

OPITZ, JM

机构：

[1] UNIV ILLINOIS,MICHAEL REESE HOSP & MED CTR,CTR MED & REPROD GENET,CHICAGO,IL

[2] UNIV ILLINOIS,DEPT PEDIAT,CHICAGO,IL

[3] UNIV ILLINOIS,DEPT OPHTHALMOL PEDIAT OPHTHALMOL & BIRTH DEFECTS,CHICAGO,IL

[4] FDN DEV & MED GENET,TOLEDO,OH

[5] MONTANA STATE UNIV BOZEMAN,HELENA,MT

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 53卷 / 02期

关键词：

CONGENITAL ABNORMALITIES; MICROCEPHALY; LYMPHEDEMA; CHORIORETINAL DYSPLASIA;

D O I：

10.1002/ajmg.1320530202

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In recent years, several patients with microcephaly, lymphedema and chorioretinal dysplasia have been described. We have studied two additional patients with similar findings. The question of whether microcephaly with lymphedema and microcephaly with chorioretinal dysplasia and lymphedema are distinct entities remains unanswered. Identification of other patients in the future may provide additional information. (C) 1994 Wiley-Liss, Inc.

引用

页码：99 / 101

页数：3

共 11 条

[1]

ALZIAL C, 1980, ANN GENET-PARIS, V23, P91

[2] AUTOSOMAL RECESSIVE MICROCEPHALY ASSOCIATED WITH CHORIORETINOPATHY [J].