Document Detail


Recurrent developmental anomalies: 1. Syndrome of hydranencephaly with renal aplastic dysplasia; 2. Polyvalvular developmental heart defect.
MedLine Citation:
PMID:  3130870     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present 2 examples of previously apparently undescribed congenital anomalies that recurred in a subsequent pregnancy. In one case this was a multiple-congenital-anomalies syndrome of hydranencephaly with multinucleated neurons, hypoplastic kidneys, and syndactyly of the second and third toes. The second case involved atrioventricular valve thickening resulting in tricuspid insufficiency and mitral stenosis. These cases suggest that if after a complete autopsy the findings are unprecedented, then the recurrent risk in a subsequent pregnancy may be high. This hypothesis has not been tested prospectively.
Authors:
R W Bendon; T Siddiqi; G de Courten-Myers; P Dignan
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Supplement     Volume:  3     ISSN:  1040-3787     ISO Abbreviation:  Am J Med Genet Suppl     Publication Date:  1987  
Date Detail:
Created Date:  1988-07-05     Completed Date:  1988-07-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8706133     Medline TA:  Am J Med Genet Suppl     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  357-65     Citation Subset:  IM    
Affiliation:
Department of Pathology and Laboratory Medicine, College of Medicine, University of Cincinnati, Ohio 45267-0529.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Anencephaly / genetics*
Heart Valves / abnormalities*
Humans
Hydranencephaly / genetics*,  pathology
Infant, Newborn
Kidney / abnormalities*
Male
Syndrome

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