THE NOONAN-CFC CONTROVERSY

被引：46

作者：

NERI, G

ZOLLINO, M

REYNOLDS, JF

机构：

[1] UNIV CATTOLICA SACRO CUORE, FAC MED A GEMELLI, IST GENET UMANA, I-00168 ROME, ITALY

[2] SHODAIR CHILDRENS HOSP, DEPT MED GENET, HELENA, MT USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 03期

关键词：

MULTIPLE CONGENITAL ANOMALIES MENTAL RETARDATION SYNDROME; CONGENITAL LYMPHEDEMA; SKIN ABNORMALITIES; CONGENITAL HEART DEFECTS;

D O I：

10.1002/ajmg.1320390323

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Noonan syndrome and the cardio-facio-cutaneous (CFC) syndrome have been described as phenotypically and genetically distinct entities. However, the resemblance between them led some authors to question the validity of this separation. We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype.

引用

页码：367 / 370

页数：4

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