Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome?

被引:0
|
作者
Pivnick, EK
Wilroy, RS
Martens, PR
Teather, TC
Hashimoto, K
机构
[1] BREVARD EYE CTR,MELBOURNE,FL
[2] WAYNE STATE UNIV,SCH MED,DETROIT,MI
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 62卷 / 04期
关键词
congenital hypertrichosis; pigmentary retinopathy; facial dysmorphia;
D O I
10.1002/(SICI)1096-8628(19960424)62:4<386::AID-AJMG11>3.0.CO;2-K
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a 22-month-old male with congenital hypertrichosis of the face, arms, legs, shoulders, back, and buttocks, abnormal facial appearance, dolichocephaly, and pigmentary retinopathy. Symmetrical hyperpigmentation is present on the sideburn areas of his face, and hyperpigmented streaks are seen on arms and legs. Biopsy of the hyperpigmented skin showed many separate bundles of smooth muscles in the dermis. No relative had hypertrichosis or other birth defects. To our knowledge, the syndrome of facial anomalies, pigmentary retinopathy, and congenital hypertrichosis has not been reported previously. (C) 1996 Wiley-Liss, Inc.
引用
收藏
页码:386 / 390
页数:5
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