Hong Kong Journal of Orthopaedic Surgery

Volume 5 Number 2, October 2001

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




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