CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME - REPORT OF 2 PATIENTS WITHOUT HYPERKERATOTIC SKIN-LESIONS

被引：19

作者：

MATSUDA, Y

MURANO, I

KONDOH, O

MATSUO, K

KAJII, T

机构：

[1] Department of Pediatrics, Yamaguchi University, School of Medicine, Ube, Yamaguchi

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 02期

关键词：

MENTAL RETARDATION; MULTIPLE CONGENITAL ANOMALIES SYNDROME; ECTODERMAL DYSPLASIA; CARDIAC DEFECTS; SPORADIC OCCURRENCE; CFC SYNDROME;

D O I：

10.1002/ajmg.1320390206

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on two boys with the cardio-facio-cutaneous (CFC) syndrome, but without hyperkeratotic skin involvement. They showed most of the manifestations of the CFC syndrome: growth and developmental retardation, relative macrocephaly, distinct facial appearance, sparse hair, and heart defects. Their skin was not hyperkeratotic, but patient 1 had mild atopic dermatitis and keloid-like depigmented spots.

引用

页码：144 / 147

页数：4

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