Klippel Feil综合征III型伴罕见先天性异常:一罕见病例报告

Tarun S Singh, D. Gupta, Payal Keswani, Patil Tushar Liladhar
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摘要

Klippel Feil综合征(KFS)是一种先天性畸形,具有两个或多个颈椎椎体融合,其特征是典型的后发际线低、颈部短和活动范围受限。我们报告了一例罕见的III型Klippel - Feil综合征,具有典型的临床三联征,伴有椎弓根畸形和寰枕同化。这名婴儿出生在印度新德里曼戈尔普里的桑贾伊·甘地纪念医院。详细讨论在个案报告中进行。预后基于Samartzi等人的放射学分类,该分类将KFS分为3种类型,以II型为最常见的类型。相关异常包括脊柱侧凸或脊柱后凸、肾脏疾病、脊柱畸形、听力丧失、肢体联合运动或镜像运动、先天性心脏缺陷、颅面畸形和耳、鼻、口、喉的骨骼异常。适当的治疗需要多学科的方法,包括神经科医生、骨科医生、儿科医生、护士、物理治疗师和神经外科医生。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Klippel Feil Syndrome Type III with Associated Rare Congenital Anomalies: A Rare Case Report
Klippel Feil Syndrome (KFS) is a congenital anomaly having fusion of two or more cervical vertebral bodies characterized by presence of classic triad of low posterior hairline, short neck and restricted range of motion. We have reported a rare case of Type III Klippel Feil Syndrome having classical clinical triad with sprengel deformity and atlantooccipital assimilation. The baby was born at Sanjay Gandhi Memorial Hospital, Mangolpuri, New Delhi, INDIA. The detailed discussion is done in case report. Prognosis is based on radiological classification by Samartzi’s et al. which classifies KFS under 3 types with type II as commonest variety. Associated anomalies includes scoliosis or kyphosis, renal disease, sprengel deformity, loss of hearing, synkinesis or mirror movements, congenital heart defects, craniofacial malformations & skeletal abnormalities of ear, nose, mouth and larynx. Proper management requires multidisciplinary approach including neurologist, orthopedic surgeon, pediatrician, nurse practioner, physical therapist, and neurosurgeon.
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