THE CARDIO-FACIO-CUTANEOUS (CFC) SYNDROME AND NOONAN SYNDROME - ARE THEY THE SAME

被引:48
作者
FRYER, AE
HOLT, PJ
HUGHES, HE
机构
[1] UNIV HOSP WALES,INST MED GENET,CARDIFF,WALES
[2] UNIV HOSP WALES,DEPT DERMATOL,CARDIFF,WALES
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 38卷 / 04期
关键词
FACIES; ABNORMAL HAIR AND SKIN; SPORADIC OCCURRENCE;
D O I
10.1002/ajmg.1320380410
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The distinction between the cardio-facio-cu-taneous syndrome (CFC) and the Noonan syndrome (NS) has been based on the presence of a characteristic facies, abnormal hair and skin, and sporadic occurrence. However, all reports of the CFC syndrome comment on the similarity between it and NS, and its sporadic nature is now debatable. This report demonstrates the evolution of the clinical phenotype in a patient with the CFC syndrome and prompts us to question the validity of separating CFC from NS.
引用
收藏
页码:548 / 551
页数:4
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