Document Detail

Unusual clinical history of a male infant with Edwards syndrome.
MedLine Citation:
PMID:  18575830     Owner:  NLM     Status:  MEDLINE    
Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.
Andrea Surányi; Tamás Bitó; György Vajda; László Kaiser; Gábor Gáspár; Márta Katona; János Szabó; Attila Pál
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-06-25
Journal Detail:
Title:  Pathology oncology research : POR     Volume:  15     ISSN:  1219-4956     ISO Abbreviation:  Pathol. Oncol. Res.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-04-13     Completed Date:  2009-08-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9706087     Medline TA:  Pathol Oncol Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  147-52     Citation Subset:  IM    
Department of Obstetrics and Gynaecology, University of Szeged, Szeged 6725, Semmelweis u. 1. 438, Szeged, Hungary.
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MeSH Terms
Abnormalities, Multiple / diagnosis*,  genetics
Chromosome Aberrations*
Chromosomes, Human, Pair 18 / genetics*
Fatal Outcome

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