NEW SYNDROME - FAMILIAL OCCURRENCE OF RENAL AND MULLERIAN DUCT HYPOPLASIA, CRANIOFACIAL ANOMALIES, SEVERE GROWTH AND DEVELOPMENTAL DELAY

被引：4

作者：

DAVEE, MA ^{[1
]}

MOORE, CA ^{[1
]}

BULL, MJ ^{[1
]}

HODES, ME ^{[1
]}

机构：

[1] INDIANA UNIV,SCH MED,DEPT PEDIAT,INDIANAPOLIS,IN 46202

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 44卷 / 03期

关键词：

RENAL HYPOPLASIA; MULLERIAN DUCT HYPOPLASIA; GLOBAL DEVELOPMENTAL DELAY;

D O I：

10.1002/ajmg.1320440306

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Absence of the kidneys and of the Mullerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Mullerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed.

引用

页码：293 / 296

页数：4

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