Barbosa Mafalda, Perdu Bram, Senra Virgílio, Macedo Filipe, Van Hul Wim, Reis-Lima Margarida, Pinto-Basto Jorge
Centro de Genética Médica Dr. Jacinto Magalhães, Departamento de Genética, Instituto Nacional de Saúde Dr. Ricardo Jorge, Porto.
Acta Med Port. 2010 Nov-Dec;23(6):1147-50. Epub 2010 Dec 28.
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.
我们报告了一名女性患者，她出现生长发育迟缓、喉气管软化、传导性耳聋和面部畸形。骨骼检查显示颅穹窿增厚，所有长骨骨干两端出现线状条纹，髂骨呈扇形条纹。颞骨CT扫描显示颅底增厚、乳突硬化、听骨固定异常和耳孔狭窄。影像学检查结果导致诊断为伴有颅骨硬化的条纹状骨病。WTX基因的突变证实了该患者伴有颅骨硬化的条纹状骨病的临床和影像学诊断，并有助于进行适当的遗传咨询和提供产前诊断。
