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sclerosteosis
Epidemiology:
- majority of affected individuals have been reported in the Afrikaner population of South Africa, due to 'founder effect'
Pathology:
- sclerosing bone dysplasia
Genetics:
1) autosomal recessive
2) associated with defect in SOST gene Clinical manifestatios:
1) progressive skeletal overgrowth
2) similar to van Buchem hyperostosis corticalis generalisata
3) asymmetric cutaneous syndactyly of the index & middle fingers (many cases)
Radiology:
- differs from van Buchem hyperostosis corticalis generalisata in radiologic appearance of the bone changes
General
skeletal dysplasia
sclerosis
Database Correlations
OMIM 269500
References
OMIM :accession 269500