title: [Osteopathia striata with cranial sclerosis].
abstract: 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.
authors.affiliation: Centro de Genética Médica Dr. Jacinto Magalhães, Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto.
authors.forename: Mafalda
authors.initials: M
authors.lastname: Barbosa
authors.forename: Bram
authors.initials: B
authors.lastname: Perdu
authors.forename: Virgílio
authors.initials: V
authors.lastname: Senra
authors.forename: Filipe
authors.initials: F
authors.lastname: Macedo
authors.forename: Wim
authors.initials: W
authors.lastname: Van Hul
authors.forename: Margarida
authors.initials: M
authors.lastname: Reis-Lima
authors.forename: Jorge
authors.initials: J
authors.lastname: Pinto-Basto
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D010026:Osteosclerosis / Q000000981:diagnostic imaging; D011859:Radiography