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Scoliosis in a Case of Schinzel - Giedion Syndrome

Amit K. Sharma
Clinical Fellow-Spine, Hospital for Special Surgery

Joseph A. Gonzales
Department of Orthopedic Surgery, Children’s Hospital, New Orleans, LA

Abstract

Schinzel–Giedion syndrome (SGS) is a rare disorder characterized by midface retraction, hypertrichosis, and multiple skeletal anomalies with severe mental retardation. Various skeletal manifestations of the disease have been previously described. We present the first case of SGS developing scoliosis. The patient presented with scoliosis at the age of 8 years which rapidly progressed to severe thoraco-lumbar scoliosis. Survival beyond 2 years is rare in this syndrome. The objective of this report is to describe the possibility of development of scoliosis in SGS due to the neuromuscular nature of the syndrome, especially in long survivors.

This article appears in HSS Journal: Volume 5, Number 2.
View the full article at springerlink.com.

About the HSS Journal

HSS Journal, an academic peer-reviewed journal, is published twice a year, February and September, and features articles by internal faculty and HSS alumni that present current research and clinical work in the field of musculoskeletal medicine performed at HSS, including research articles, surgical procedures, and case reports.

 

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