Prader-Willi syndrome: is there a recognizable fetal phenotype?

被引：33

作者：

Bigi, Nicole ^{[1
]}

Faure, Jean-Michel ^{[2
]}

Coubes, Christine ^{[1
]}

Puechberty, Jacques ^{[1
]}

Lefort, Genevieve ^{[1
]}

Sarda, Pierre ^{[1
]}

Blanchet, Patricia ^{[1
]}

机构：

[1] Ctr Hosp Reg & Univ, Hop Arnaud Villeneuve, Serv Genet Med, Ctr Reference Anomalies Dev & Syndromes Malformat, F-34295 Montpellier 5, France

[2] Ctr Hosp Reg & Univ, Hop Arnaud Villeneuve, Serv Gynecol Obstet, F-34295 Montpellier, France

来源：

PRENATAL DIAGNOSIS | 2008年 / 28卷 / 09期

关键词：

Prader-Willi syndrome; fetal phenotype; prenatal diagnosis;

D O I：

10.1002/pd.1973

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objectives To determine fetal features. Which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy. Methods We analyze the ultrasound features, genetic Studies and pathologic findings in two cases of PWS diagnosed during, pregnancy. Results In the first case, diminished fetal movement. polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and I deletion was detected in the 15q11-q13 region. In the second case. similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes. Conclusions The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS. Copyright (c) 2008 John Wiley & Sons. Ltd.

引用

页码：796 / 799

页数：4

共 15 条

[1] PHYSICAL FEATURES OF PRADER-WILLI SYNDROME IN NEONATES [J].