ECTODERMAL DYSPLASIA, LIPOATROPHY, DIABETES-MELLITUS, AND AMASTIA - A 2ND CASE OF THE AREDYLD SYNDROME

被引：7

作者：

BRESLAUSIDERIUS, EJ

TOONSTRA, J

BAART, JA

KOPPESCHAAR, HPF

MAASSEN, JA

BEEMER, FA

机构：

[1] UNIV HOSP UTRECHT,CLIN GENET CTR UTECHT,POB 18009,3501 CA UTRECHT,NETHERLANDS

[2] UNIV UTRECHT HOSP,DEPT ENDOCRINOL,3511 GV UTRECHT,NETHERLANDS

[3] UNIV CHILDRENS HOSP NETHERLANDS,UTRECHT,NETHERLANDS

[4] HOSP MAARSCHALKSBOS,BAARN,NETHERLANDS

[5] FREE UNIV AMSTERDAM,ACAD HOSP,DEPT ORAL & MAXILLO FACIAL SURG,1007 MC AMSTERDAM,NETHERLANDS

[6] SYLUIUS LABS,MED BIOCHEM,LEIDEN,NETHERLANDS

来源：

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

关键词：

ECTODERMAL DYSPLASIA; LIPOATROPHY; DIABETES-MELLITUS; AMASTIA; AREDYLD SYNDROME;

D O I：

10.1002/ajmg.1320440321

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A 19-year-old female with ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia is described. This complex of symptoms is very similar to that of a case published by Pinheiro et al [1983] under the acronym of AREDYLD syndrome.

引用

页码：374 / 377

页数：4

共 8 条

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