Document Detail

Jeune asphyxiating thoracic dystrophy and short-rib polydactyly type III (Verma-Naumoff) are variants of the same disorder.
MedLine Citation:
PMID:  10710229     Owner:  NLM     Status:  MEDLINE    
Jeune syndrome (JS) and short-rib polydactyly syndrome type III (SRP type III) are autosomal recessive disorders characterized by short ribs and polydactyly. They are distinguished from each other by the more severe radiological and histological bone findings as well as the occurrence of facial anomalies, ambiguous genitalia, and occasionally, cloacal abnormalities in SRP type III. We present a family in which two children have mild JS and one has SRP type III as evidence that JS and SRP type III are variants of the same disorder. The intrafamilial variability may reflect the effects of modifying loci on gene expression.
N C Ho; C A Francomano; M van Allen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  90     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Feb 
Date Detail:
Created Date:  2000-04-14     Completed Date:  2000-04-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  310-4     Citation Subset:  IM    
Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892, USA.
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MeSH Terms
Abnormalities, Multiple / pathology*,  radiography,  ultrasonography
Asphyxia Neonatorum / pathology*,  radiography,  ultrasonography
Infant, Newborn
Osteochondrodysplasias / pathology*,  radiography,  ultrasonography
Polydactyly / pathology*,  radiography,  ultrasonography
Ribs / abnormalities

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