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01-09-2009 | Case Report

Scoliosis in a Case of Schinzel–Giedion Syndrome

Authors: Amit K. Sharma, MD, DNB, Joseph A. Gonzales, MD

Published in: HSS Journal ® | Issue 2/2009

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.

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Title: Scoliosis in a Case of Schinzel–Giedion Syndrome
Authors: Amit K. Sharma, MD, DNB
Joseph A. Gonzales, MD
Publication date: 01-09-2009
Publisher: Springer-Verlag
Published in: HSS Journal ® / Issue 2/2009
Print ISSN: 1556-3316
Electronic ISSN: 1556-3324
DOI: https://doi.org/10.1007/s11420-009-9111-1

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Scoliosis in a Case of Schinzel–Giedion Syndrome

Abstract

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