Document Detail


Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review.
MedLine Citation:
PMID:  21391441     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
Apert syndrome is characterized by craniosynostosis, midfacial malformations and symmetrical syndactyly of the hands and feet. We report a case of prenatal sonographic diagnosis of Apert syndrome. Mild ventriculomegaly with normal head shape observed at 22 weeks gestation, followed by colpocephaly at 25 weeks gestation and bilateral syndactyly and subsequent craniosynostosis at 28 weeks, led to the prenatal diagnosis of Apert syndrome. The diagnosis was confirmed by physical examination and molecular study after birth. Additionally the authors present the review of literature on prenatal sonographic diagnosis of Apert syndrome.
Authors:
Maria Respondek-Liberska; Robert Smigiel; Andrzej Zielinski; Maria Malgorzata Sasiadek
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Ginekologia polska     Volume:  81     ISSN:  0017-0011     ISO Abbreviation:  Ginekol. Pol.     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2011-03-11     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0374641     Medline TA:  Ginekol Pol     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  935-9     Citation Subset:  IM    
Affiliation:
Department for Fetal Congenital Malformations Diagnoses and Prevention, Medical University of Lodz, Poland. majkares@uni.lodz.pl
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