Osteopathia striata with cranial sclerosis.

Mafalda Barbosa, Bram Perdu, Virgílio Senra, Filipe Macedo, Wim Van Hul, Margarida Reis-Lima, Jorge Pinto-Basto


We report on a female patient who presented failure to thrive, laryngotracheomalacia, conductive deafness and facial dysmorphisms. A skeletal survey revealed thickening of the cranial vault, linear striations in the diametaphyses of all long bones and fan-like striations of the iliac bones. CT scan of the temporal bone showed thickening of the cranial base, sclerotic mastoids, abnormal ossicular fixation and stenosis of the otic foramina. The radiological findings led to the diagnosis of Osteopathia Striata with Cranial Sclerosis. A mutation in WTX gene confirmed the clinical and radiological diagnosis of Osteopathia Striata with Cranial Sclerosis in this patient and allowed proper genetic counseling and providing prenatal diagnosis.

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