The syndromic status of sclerosteosis and van Buchem disease
β Scribed by P. Beighton; A. Barnard; H. Hamersma; A. van der Wouden
- Book ID
- 119839549
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 874 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0009-9163
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π SIMILAR VOLUMES
In this paper we report a 7.5-year-old physically normal boy with van Buchem disease (endosteal hyperostosis). Vague complaints of headache were the indication for X-ray examination. At the age of 2 months a left-side peripheral facial nerve palsy suddenly occurred in this boy. Skull X-rays gave nor
## Abstract Sclerosteosis is a rare bone sclerosing dysplasia, caused by lossβofβfunction mutations in the __SOST__ gene, encoding sclerostin, a negative regulator of bone formation. The purpose of this study was to determine how the lack of sclerostin affects bone turnover in patients with scleros