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Scoliosis in a Case of Schinzel–Giedion Syndrome

  • Case Report
  • Published:
HSS Journal

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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Authors and Affiliations

  1. Clinical Fellow-Spine, Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA

    Amit K. Sharma MD, DNB

  2. Department of Orthopedic Surgery, Children’s Hospital, New Orleans, LA, USA

    Joseph A. Gonzales MD

Authors
  1. Amit K. Sharma MD, DNB
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  2. Joseph A. Gonzales MD
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Corresponding author

Correspondence to Amit K. Sharma MD, DNB.

Additional information

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

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Sharma, A.K., Gonzales, J.A. Scoliosis in a Case of Schinzel–Giedion Syndrome. HSS Jrnl 5, 120–122 (2009). https://doi.org/10.1007/s11420-009-9111-1

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  • DOI: https://doi.org/10.1007/s11420-009-9111-1

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