Document Detail


Prenatal diagnosis of MPPH syndrome.
MedLine Citation:
PMID:  23348821     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
We report the prenatal sonographic detection of a fetus with megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly. Only 14 patients have been reported in the literature so far, all but one were diagnosed postnatally. The polymicrogyria in the frontoparietal lobe was confirmed by prenatal magnetic resonance imaging. Additionally, a hypoplastic thymus as seen in a 22q11 deletion was present. Although polymicrogyria along with pre-axial polydactyly has been described in 22q11 deletion, the diagnosis of Di George syndrome was ruled out. The etiology of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephaly has not been revealed yet. A dominant as well as recessive inheritance has been suggested. © 2013 John Wiley & Sons, Ltd.
Authors:
Bart De Keersmaecker; Hilde Van Esch; Dominique Van Schoubroeck; Filip Claus; Philippe Moerman; Luc De Catte
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-24
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons, Ltd.
Affiliation:
Department of Obstetrics and Gynecology, University Hospitals, Leuven, Belgium.
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