Document Detail


A Japanese boy with Young-Simpson syndrome.
MedLine Citation:
PMID:  9316295     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
T Nakamura; S Noma
Related Documents :
2983275 - Fetal atrial flutter and x-linked dominant vitamin d-resistant rickets.
3616795 - Haemoglobin köln in cape town. a case report.
23476875 - Gastric volvulus and wandering spleen: a rare surgical emergency.
11701255 - Clinical and pedigree study on familial cases of west syndrome in japan.
24292755 - Sarcoidosis in a chronic dialysis patient diagnosed by sarcoidosis-related hypercalcemi...
16967255 - Thrombosed extrahepatic portal vein aneurysm: report of two cases and review of the lit...
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    
Affiliation:
Department of Neonatology, Tokyo Metropolitan Children's Hospital, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple*
Blepharophimosis*
Congenital Hypothyroidism*
Heart Defects, Congenital*
Humans
Infant, Newborn
Male
Mental Retardation*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Diffuse fibromatosis on the scalp in infancy: a variant of juvenile hyaline fibromatosis.
Next Document:  Lingual cyst in infancy: importance of palpation for diagnosis.