Mowat-Wilson syndrome

被引：169

作者：

Mowat, DR

Wilson, MJ

Goossens, M

机构：

[1] Univ New S Wales, Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW 2031, Australia

[2] Childrens Hosp Westmead, Western Sydney Genet Program, Dept Clin Genet, Sydney, NSW 2145, Australia

[3] Hop Henri Mondor, INSERM, U468, F-94010 Creteil, France

[4] Hop Henri Mondor, AP HP, Serv Biochim & Genet, F-94010 Creteil, France

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 05期

关键词：

D O I：

10.1136/jmg.40.5.305

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

MWS is a multiple congenital anomaly syndrome, first clinically delineated by Mowat et al in 1998. Over 45 cases have now been reported. All patients have typical dysmorphic features in association with severe intellectual disability, and nearly all have microcephaly and seizures. Congenital anomalies, including Hirschsprung disease (HSCR), congenital heart disease, hypospadias, genitourinary anomalies, agenesis of the corpus callosum, and short stature are common. The syndrome is the result of heterozygous deletions or truncating mutations of the ZFHX1B (SIP1) gene on chromosome 2q22.

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页码：305 / 310

页数：6

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