| A Japanese boy with Young-Simpson syndrome. | |
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MedLine Citation:
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PMID: 9316295 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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T Nakamura; S Noma |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta paediatrica Japonica; Overseas edition Volume: 39 ISSN: 0374-5600 ISO Abbreviation: Acta Paediatr Jpn Publication Date: 1997 Aug |
Date Detail:
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Created Date: 1997-11-06 Completed Date: 1997-11-06 Revised Date: 2005-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0370357 Medline TA: Acta Paediatr Jpn Country: AUSTRALIA |
Other Details:
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Languages: eng Pagination: 472-4 Citation Subset: IM |
Affiliation:
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Department of Neonatology, Tokyo Metropolitan Children's Hospital, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Blepharophimosis* Congenital Hypothyroidism* Heart Defects, Congenital* Humans Infant, Newborn Male Mental Retardation* Syndrome |
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