颅面圆锥发育异常。
Craniofacial conodysplasia.
作者信息
Beals R K, Piatt J H, Zonana J
机构信息
Division of Orthopaedics and Rehabilitation, Oregon Health Sciences University, Portland 97201-3098, USA.
出版信息
J Pediatr Orthop. 1995 Sep-Oct;15(5):633-6. doi: 10.1097/01241398-199509000-00016.
Abstract
A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.
摘要
本文描述了一个具有显性遗传的家族，该家族患有一种此前未报道过的颅面发育异常综合征，同时伴有手足锥形骨骺。颅颈交界处的脑积水和脊髓受压会导致神经并发症，并酷似脑瘫。早期诊断和治疗可能会预防神经病变的进展。
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