Hong Kong Journal of Orthopaedic Surgery

Volume 5 Number 2, October 2001
Abstract

A case of Nievergelt-Pearlman syndrome in a Chinese patient

Wong EWY, Lee EWK
Department of Orthopaedics and Traumatology, Tweung Kwan O Hospital, Hong Kong

We describe incidental findings in a Chinese patient that fit into the diagnosis of Nievergelt-Pearlman or multiple synostoses syndrome. The patient's essential clinical features included symphalangism, carpal and tarsal coalition, conductive deafness, elbow dysplasia, and minor axial skeleton abnormalities. Functional adaptation was excellent despite diffuse skeletal abnormalities. No operative correction was deemed necessary. (Hong Kong Journal of Orthopaedic Surgery 2001;5(2):133-137.)

Key Words : Abnormalities, multiple; Deafness; Foot/hand deformities, congenital; Syndrome; Synostoses

華人患Nievergelt-Pearlman綜合症:一病例報告

黃詠儀、李偉強

本文報導一例Nievergelt-Pearlman綜合症,或稱多發性骨性聯合症。其主要臨床徵象為併指骨,併腕骨,併跗骨,傳導性聾症,肘關節發育不良、及其他較輕微之體軸骨骼變異。病者雖有普遍性之骨性聯合,但在功能表現上適應性良好;無須施行分割手術。


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