Schinzel海豹肢综合征并神经源性膀胱一例报道

A Case Report of Schinzel’s Seal Limb Syndrome with Neurogenic Bladder

摘要: 海豹肢畸形(Phocomelia)是一种罕见的局部肢体畸形，其发病率约为4.2/1,000,000。根据患者肢体相对于躯干的缺失程度，海豹肢畸形分为完全型海豹肢畸形、部分型海豹肢畸形(近侧海豹肢畸形和远侧海豹肢畸形)、未分类型海豹肢畸形。神经源性膀胱(Neuropathic Bladder)是指由中枢神经系统病变或周围神经系统病变导致的膀胱和尿道括约肌功能障碍。海豹肢畸形产前超声诊断率极高，一经诊断便会选择引产，因此海豹肢畸形患儿的出生率极低，且海豹肢畸形患儿出生后存活率极低，经过查阅文献，国内尚未见海豹肢畸形合并神经源性膀胱的相关病例报道。目前在赣南医科大学第一附属医院小儿外科接诊海豹肢畸形合并神经源性膀胱患儿一例，现将病例报告如下。

Abstract: Phocomelia is a rare partial limb deformity with an incidence of approximately 4.2/1,000,000. Depending on the degree of loss of the limb relative to the trunk, phocomelia is categorized as complete phocomelia, partial phocomelia (proximal phocomelia and distal phocomelia), or unclassified phocomelia. 1) The incidence of phocomelia is approximately 4.2/100,000,000. 2) The incidence of phocomelia is approximately 4.2/1,000,000. 3) The incidence of phocomelia is approximately 4.2/1,000,000. 4) The incidence of phocomelia is approximately 4.2/100,000,000. Neuropathic Bladder is a bladder and urethral sphincter dysfunction caused by a central nervous system lesion or a peripheral nervous system lesion. The prenatal ultrasound diagnosis of seal limb malformation is very high, and once diagnosed, labor is induced, so the birth rate of children with seal limb malformation is very low, and the survival rate of children with seal limb malformation is very low. After reviewing the literature, we have not seen any case report of seal limb malformation combined with neuropathic bladder in China. At present, a case of seal limb malformation combined with neurogenic bladder was received in the Department of Pediatric Surgery of the First Affiliated Hospital of Gannan Medical University, Gannan, China, and is reported as follows.