Hawasli Ammar H, Beaumont Thomas L, Vogel Timothy W, Woo Albert S, Leonard Jeffrey R
Department of Neurosurgery and.
J Neurosurg Pediatr. 2014 Aug;14(2):200-2. doi: 10.3171/2014.5.PEDS13688. Epub 2014 Jun 13.
Acalvaria is a rare congenital malformation characterized by an absence of skin and skull. The authors describe a newborn at an estimated 38 weeks gestational age who was delivered via cesarean section from a 32-year-old mother. Upon delivery, the child was noted to have a frontal encephalocele and an absence of calvaria including skull and skin overlying the brain. A thin membrane representing dura mater was overlying the cortical tissue. After multiple craniofacial operations, including repair of the encephalocele and application of cultured keratinocytes over the rostral defect, the patient demonstrated significant closure of the calvarial defect and was alive at an age of more than 17 months with near-average development.
无颅骨畸形是一种罕见的先天性畸形，其特征是没有皮肤和颅骨。作者描述了一名估计孕龄为38周的新生儿，通过剖宫产从一位32岁的母亲分娩。分娩时，发现该患儿有额部脑膨出，且没有包括颅骨和覆盖大脑的皮肤在内的颅骨。一层代表硬脑膜的薄膜覆盖在皮质组织上。经过多次颅面手术，包括脑膨出修复和在头端缺损处应用培养的角质形成细胞后，患者颅骨缺损明显闭合，在17个月以上时存活，发育接近正常。
