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