sclerosteosis
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Epidemiology
- majority of affected individuals have been reported in the Afrikaner population of South Africa, due to 'founder effect'
Pathology
- sclerosing bone dysplasia
Genetics
- autosomal recessive
- associated with defect in SOST gene Clinical manifestatios:
- progressive skeletal overgrowth
- similar to van Buchem hyperostosis corticalis generalisata
- 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