PREVIOUSLY UNRECOGNIZED CONGENITAL PROGEROID DISORDER

被引：23
|
作者：
PETTY, EM
LAXOVA, R
WIEDEMANN, HR
机构：
[1] UNIV WISCONSIN, SCH MED, DEPT PEDIAT, MADISON, WI 53706 USA
[2] UNIV WISCONSIN, SCH MED, DEPT GENET, MADISON, WI 53706 USA
[3] UNIV KIEL, DEPT PEDIAT, W-2300 KIEL 1, GERMANY
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 03期
关键词：
Abnormal nails; Growth retardation; Progeroid; Scant hair; Wrinkled skin;
D O I：
10.1002/ajmg.1320350314
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report on a 5-year-old girl with a progeroid disorder and compare her to a previously reported woman now in her forties, whom she resembles to a striking degree. Common manifestations include pre- and post-natal growth retardation, markedly diminished subcutaneous fat, wrinkled skin, abnormally scant hair growth, hypoplastic distal phalanges with hypoplastic nails, umbilical hernia, large open anterior fontanelle, and normal cognitive and motor development. Both patients have had a prematurely aged appearance since birth. These 2 patients appear so different from previously reported patients with progeroid disorders that they may represent a separate entity.
引用
收藏
页码：383 / 387
页数：5
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