Document Detail

Prader-Willi syndrome: is there a recognizable fetal phenotype?
MedLine Citation:
PMID:  18661490     Owner:  NLM     Status:  MEDLINE    
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 a 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.
Nicole Bigi; Jean-Michel Faure; Christine Coubes; Jacques Puechberty; Geneviève Lefort; Pierre Sarda; Patricia Blanchet
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  28     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2008 Sep 
Date Detail:
Created Date:  2008-09-01     Completed Date:  2009-02-10     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  796-9     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2008 John Wiley & Sons, Ltd.
Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.
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MeSH Terms
In Situ Hybridization, Fluorescence
Prader-Willi Syndrome / genetics,  ultrasonography*

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