Osteopathia striata with cranial sclerosis

Definition:

Osteopathia striata with cranial sclerosis (OSCS) is a bone dysplasia characterized by longitudinal striations in the metaphyseal region of the long bones and sclerosis of the craniofacial bones. The condition is X-linked dominant. Germline mutations in WTX gene cause OSCS through increased osteoblast activity.

References:

[1]. A L Bueno, et al. Severe malformations in males from families with osteopathia striata with cranial sclerosis. Clin Genet. 1998 Nov;54(5):400-5. [Content Brief]

[2]. Bram Perdu, et al. Osteopathia striata with cranial sclerosis owing to WTX gene defect. J Bone Miner Res. 2010 Jan;25(1):82-90. [Content Brief]

[3]. Zandra A Jenkins, et al. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet. 2009 Jan;41(1):95-100. [Content Brief]

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