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Orthopaedic Manifestations in Turner Syndrome

Acosta, Anna M. MD; Steinman, Suzanne E. MD; White, Klane K. MD, MSc

Journal of the American Academy of Orthopaedic Surgeons: December 1, 2019 - Volume 27 - Issue 23 - p e1021-e1028
doi: 10.5435/JAAOS-D-17-00796
Review Article

Turner syndrome is one of the most common chromosomal anomalies occurring in live-born females. It has been extensively reviewed in the medical literature, yet little has been discussed regarding the skeletal manifestations that present to the orthopaedic surgeon. It is important for the orthopaedic surgeon to be familiar with the clinical findings and comorbid conditions in Turner syndrome because they may be the first line of diagnosis when a patient presents for short stature, scoliosis, or slipped capital femoral epiphysis. Recent studies have identified the short stature homeobox gene as the main cause of the skeletal differences in patients with Turner syndrome, affecting longitudinal bone growth. Skeletal deformities including short stature, delayed skeletal maturation, angular deformity of the limbs, spinal deformity, and early-onset osteoporosis have been associated with Turner syndrome. This article will review the skeletal manifestations of Turner syndrome and propose guidelines for the treatment and monitoring of these patients.

Level of Evidence: Level V

From the Department of Orthopedics and Sports Medicine, University of Washington, Seattle Children's Hospital, Seattle, WA.

None of the following authors or any immediate family member has received anything of value from or has stock or stock options held in a commercial company or institution related directly or indirectly to the subject of this article: Dr. Acosta, Dr. Steinman, and Dr. White.

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Copyright 2019 by the American Academy of Orthopaedic Surgeons.
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