Osteopathia Striata is a disease of sclerosing bone dysplasia, with longitudinal striations in metaphyses of the long bones and pelvis. The combination of this with hyperostosis of the craniofacial bones gives the condition Osteopathia striata with cranial sclerosis: OS-CS. OS-CS is an X-linked dominant congenital disorder with a prevalence of <1/1, 000,000.The causative mutation is located in the Wilms tumour gene on the X-chromosome (WTX). Males and females can both be affected, with a variable clinical manifestation even occurring within the same family [1]. The affection of male phenotypes can be mild or severe. Males mildly affected present with clinical features similar to those of affected females. Males with a severe phenotype suffer from a multi-malformation syndrome which is usually lethal in utero or during the early neonatal period [2].

OS-CS is predominantly diagnosed on the basis of clinical and radiological findings, followed by genetic testing [1,10]. Often suspected shortly after birth particularly in children with more clinically significant disease, however, some patients with milder clinical variants may remain undiagnosed until adulthood