| Unusual clinical history of a male infant with Edwards syndrome. | |
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MedLine Citation:
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PMID: 18575830 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Andrea Surányi; Tamás Bitó; György Vajda; László Kaiser; Gábor Gáspár; Márta Katona; János Szabó; Attila Pál |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-06-25 |
Journal Detail:
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Title: Pathology oncology research : POR Volume: 15 ISSN: 1219-4956 ISO Abbreviation: Pathol. Oncol. Res. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-04-13 Completed Date: 2009-08-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9706087 Medline TA: Pathol Oncol Res Country: Netherlands |
Other Details:
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Languages: eng Pagination: 147-52 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynaecology, University of Szeged, Szeged 6725, Semmelweis u. 1. 438, Szeged, Hungary. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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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
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