Prenatal diagnosis of Greig cephalopolysyndactyly syndrome: a case report

被引：3

作者：

Raposo, Laura ^{[1
]}

Fachada, Helena ^{[1
]}

Paulo, Antonio Santos ^{[1
]}

Cerveira, Isabel ^{[1
]}

Castedo, Sergio ^{[2
,3
]}

Pereira, Susana ^{[1
]}

机构：

[1] Hosp S Teotonio, Ctr Hosp Tondela Viseu, Dept Obstet & Ginecol, Unidade Med Fetal, Viseu, Portugal

[2] GDPN Genet Med & Diagnost Prenatal, Oporto, Portugal

[3] Fac Med, Dept Genet, Oporto, Portugal

来源：

PRENATAL DIAGNOSIS | 2015年 / 35卷 / 02期

关键词：

D O I：

10.1002/pd.4506

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

What's already known about this topic? Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome with an autosomal dominant pattern of inheritance. Prenatal diagnosis is challenging because the ultrasound findings are relatively non-specific. What does this study add? Prenatal diagnosis of GCPS is difficult but possible. Ultrasound findings and family history play the main role that can lead to this diagnosis as in this case. © 2014 John Wiley & Sons, Ltd.

引用

页码：203 / 205

页数：3

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