Document Detail

A new recognisable syndrome in three sibs with congenital heart disease, round face with depressed nasal bridge, short stature, and developmental retardation.
MedLine Citation:
PMID:  3225826     Owner:  NLM     Status:  MEDLINE    
We report three sibs with congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, developmental retardation, relatively dark skin, and high axial triradius. The chromosomes of the three patients were normal and the parents were unrelated, healthy, and of normal intelligence. The mother denied infections, drinking, drug intake, or exposure to known teratogenic agents during each pregnancy.
T Sonoda; S Ohdo; H Madokoro; K Ohba
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  25     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1988 Oct 
Date Detail:
Created Date:  1989-04-06     Completed Date:  1989-04-06     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  711-3     Citation Subset:  IM    
Department of Pediatrics, Miyazaki Medical College, Japan.
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MeSH Terms
Abnormalities, Multiple / genetics*
Facial Bones / abnormalities
Heart Defects, Congenital / genetics*
Infant, Newborn
Mental Retardation / genetics*

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