SKIN MANIFESTATIONS OF CARDIO-FACIO-CUTANEOUS SYNDROME

被引：26

作者：

BORRADORI, L

BLANCHETBARDON, C

机构：

[1] CHU VAUDOIS,SERV DERMATOL,CH-1011 LAUSANNE,SWITZERLAND

[2] CHU ST LOUIS,MALAD CUTANEES LAB,PARIS,FRANCE

来源：

JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY | 1993年 / 28卷 / 05期

关键词：

D O I：

10.1016/0190-9622(93)70108-6

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

The recently described cardio-facio-cutaneous syndrome is within the spectrum of multiple congenital anomalies-mental retardation syndromes. We describe two additional cases and review 22 previously reported cases. Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set posteriorly rotated ears, moderate to severe mental retardation, heart defects, and cutaneous abnormalities such as ichthyosis, widespread keratosis pilaris, keratosis pilaris atrophicans faciei, and palmoplantar keratoderma.

引用

页码：815 / 819

页数：5

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