Document Detail

The syndromic status of sclerosteosis and van Buchem disease.
MedLine Citation:
PMID:  6323069     Owner:  NLM     Status:  MEDLINE    
We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis. The Afrikaners have Dutch antecedants and it seems likely that these autosomal recessive disorders result from homozygosity of the same faulty genes. The phenotypic variation may be due to the epistatic effect of modifying genes in the Afrikaner population.
P Beighton; A Barnard; H Hamersma; A van der Wouden
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical genetics     Volume:  25     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1984 Feb 
Date Detail:
Created Date:  1984-05-21     Completed Date:  1984-05-21     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  175-81     Citation Subset:  IM    
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MeSH Terms
Body Height
Facial Expression
Genes, Recessive
Osteosclerosis / genetics*,  pathology,  radiography
South Africa
Syndactyly / genetics,  radiography
Terminology as Topic

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