Document Detail


Prenatal ultrasound findings observed in the Wolf-hirschhorn syndrome: Data from the registry of congenital malformations in auvergne.
MedLine Citation:
PMID:  24343879     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS.
CASES: Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations.
CONCLUSION: The assumption that a "Greek warrior helmet" facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Birth Defects Research (Part A), 97:806-811, 2013. © 2013 Wiley Periodicals, Inc.
Authors:
Anne Debost-Legrand; Carole Goumy; Hélène Laurichesse-Delmas; Pierre Déchelotte; Anne-Marie Beaufrère; Didier Lémery; Christine Francannet; Denis Gallot
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Publication Detail:
Type:  Journal Article     Date:  2013-11-06
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  97     ISSN:  1542-0760     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2013 Dec 
Date Detail:
Created Date:  2013-12-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  806-11     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
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