CYSTIC KIDNEY-DISEASE IN HAJDU-CHENEY SYNDROME

被引：30

作者：

KAPLAN, P

RAMOS, F

ZACKAI, EH

BELLAH, RD

KAPLAN, BS

机构：

[1] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,DEPT PEDIAT,DIV NEPHROL,PHILADELPHIA,PA 19104

[2] UNIV PENN,CHILDRENS HOSP PHILADELPHIA,DEPT RADIOL,PHILADELPHIA,PA 19104

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 56卷 / 01期

关键词：

CYSTIC KIDNEYS; HAJDU-CHENEY SYNDROME; ACROOSTEOLYSIS;

D O I：

10.1002/ajmg.1320560108

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 Hajdu-Cheney acroosteolysis syndrome, who had cystic kidneys with ultrasonographic changes similar to those of autosomal dominant polycystic kidney disease. Neither had a family history of Hajdu-Cheney syndrome or polycystic kidneys, nor manifestations of any other syndrome. On the basis of the findings in these 2 patients and a review of published cases, we suggest that cystic kidneys are an important component of Hajdu-Cheney syndrome. (C) 1995 Wiley-Liss, Inc.

引用

页码：25 / 30

页数：6

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