Document Detail


Possible association of Down syndrome and exstrophy-epispadias complex: report of two new cases and review of the literature.
MedLine Citation:
PMID:  18923839     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In the past, several midline defects have been associated with Down syndrome (DS) on a regular basis, e.g. heart defects, cleft lip and palate, neural tube defects, omphalocele and anal atresia. The exstrophy-epispadias complex (EEC) represents a rare midline defect, rarely described in association with DS. Here, we report on the co-occurrence of DS and EEC in two, so far, unreported cases and present a review of the literature. We suggest that EEC represents a rare but inherent part in the spectrum of DS-associated midline defects.
Authors:
Heiko Reutter; Arend Bökenkamp; Anne-Karolin Ebert; Wolfgang Rösch; Thomas M Boemers; Markus M Nöthen; Michael Ludwig
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2008-10-16
Journal Detail:
Title:  European journal of pediatrics     Volume:  168     ISSN:  1432-1076     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  2009 Jul 
Date Detail:
Created Date:  2009-05-14     Completed Date:  2009-08-19     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  881-3     Citation Subset:  IM    
Affiliation:
Institute of Human Genetics, University of Bonn, Bonn, Germany. reutter@uni-bonn.de
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MeSH Terms
Descriptor/Qualifier:
Bladder Exstrophy / complications*
Dandy-Walker Syndrome / complications*
Down Syndrome / complications*
Epispadias / complications*
Female
Humans
Infant, Newborn
Karyotyping
Male

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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