Document Detail


Unusual clinical history of a male infant with Edwards syndrome.
MedLine Citation:
PMID:  18575830     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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    
Affiliation:
Department of Obstetrics and Gynaecology, University of Szeged, Szeged 6725, Semmelweis u. 1. 438, Szeged, Hungary.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  genetics
Adult
Chromosome Aberrations*
Chromosomes, Human, Pair 18 / genetics*
Fatal Outcome
Female
Humans
Infant
Male
Syndrome
Trisomy*

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


Previous Document:  Extracellular ATP and cancer: an overview with special reference to P2 purinergic receptors.
Next Document:  Ethics consultations in stroke and neurological disease: a 7-year retrospective review.