The syndromic status of sclerosteosis and van Buchem disease
Article first published online: 23 APR 2008
Volume 25, Issue 2, pages 175–181, February 1984
How to Cite
Beighton, P., Barnard, A., Hamersma, H. and Wouden, A. v. d. (1984), The syndromic status of sclerosteosis and van Buchem disease. Clinical Genetics, 25: 175–181. doi: 10.1111/j.1399-0004.1984.tb00481.x
- Issue published online: 23 APR 2008
- Article first published online: 23 APR 2008
- Received 6 July, accepted for publication 27 September 1983
- Autosomal recessive inheritance;
- craniotubular hyperostoses;
- sclerosing bone dys-plasias;
- skeletal dysplasia
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.