, Volume 5, Issue 2, pp 120-122

Scoliosis in a Case of Schinzel–Giedion Syndrome

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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.

Each author certifies that he or she has no commercial associations (e.g., consultancies, stock ownership, equity interest, patent/licensing arrangements, etc.) that might pose a conflict of interest in connection with the submitted article.
No financial support in any form was received for this study from any source.
Each author certifies that his or her institution has approved the reporting of this case, that all investigations were conducted in conformity with ethical principles of research
Study performed at Children’s Hospital, New Orleans, LA