Document Detail

A Japanese boy with Young-Simpson syndrome.
MedLine Citation:
PMID:  9316295     Owner:  NLM     Status:  MEDLINE    
In 1987 Young and Simpson reported a child with hypothyroidism, a congenital heart disease, severe mental retardation and striking facial dysmorphism, including microcephaly, blepharophimosis, bulbous nose, thin lip, low-set ears and micrognathia. This study presents an 8-month-old boy with virtually identical features to those in Young and Simpson's original case. The patient is a sporadic case and his parents are unrelated and phenotypically normal, hence the family data corresponds to any mode of inheritance. This is the first male case reported in the world and the first in Orientals.
T Nakamura; S Noma
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta paediatrica Japonica; Overseas edition     Volume:  39     ISSN:  0374-5600     ISO Abbreviation:  Acta Paediatr Jpn     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-11-06     Completed Date:  1997-11-06     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0370357     Medline TA:  Acta Paediatr Jpn     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  472-4     Citation Subset:  IM    
Department of Neonatology, Tokyo Metropolitan Children's Hospital, Japan.
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MeSH Terms
Abnormalities, Multiple*
Congenital Hypothyroidism*
Heart Defects, Congenital*
Infant, Newborn
Mental Retardation*

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