Filippi syndrome: Further clinical characterization

被引：11

作者：

Battaglia, Agatino ^{[1
]}

Filippi, Tiziana ^{[1
]}

Pusceddu, Silvia ^{[2
]}

Williams, Charles A. ^{[3
]}

机构：

[1] Stella Maris Clin Res Inst Child & Adolescent Neu, I-56018 Pisa, Italy

[2] AOU Sassari, Inst Child Neuropsychiat, Sassari, Italy

[3] Univ Florida, Dept Pediat, Div Genet, Raymond C Philips Res & Educ Unit, Gainesville, FL USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 14期

关键词：

Filippi syndrome; syndactyly; developmental delay/mental retardation; human malformation; epilepsy language impairment;

D O I：

10.1002/ajmg.a.32400

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a child with Filippi syndrome who shows synclactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the qjA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome. (c) 2008 Wiley-Liss, Inc.

引用

页码：1848 / 1852

页数：5

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