Cardio-facio-cutaneous (CFC) syndrome: Report of an adult without mental retardation

被引：0

作者：

Manoukian, S

Lalatta, F

Selicorni, A

Tadini, G

Cavalli, R

Neri, G

机构：

[1] UNIV MILAN,IST CLIN PERFEZIONAMENTO,LAB CITOGENET,I-20122 MILAN,ITALY

[2] UNIV MILAN,CLIN PEDIAT 2,MILAN,ITALY

[3] UNIV MILAN,IST SCI DERMATOL,CTR MALATTIE CUTANEE EREDITARIE,MILAN,ITALY

[4] UNIV CATTOLICA,IST GENET UMANA,ROME,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1996年 / 63卷 / 02期

关键词：

cardio-facio-cutaneous syndrome; mental retardation;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a 25-year-old woman with typical manifestations of the cardio-facio-cutaneous (CFC) syndrome, but without mental retardation. She had valvular and infundibular pulmonic stenosis, brittle and woolly hair with patchy alopecia, scant body hair, dry and hypohydrotic skin, and characteristic facial traits. To our knowledge, this is the first case of CFC syndrome without mental retardation but typical cutaneous findings. (C) 1996 Wiley-Liss, Inc.

引用

页码：382 / 385

页数：4

共 20 条

[1]

BLANCHETBARDON C, 1991, ANN DERMATOL VENER, V118, P778

[2] SKIN MANIFESTATIONS OF CARDIO-FACIO-CUTANEOUS SYNDROME [J].