Orthopedic Manifestations in Turner Syndrome
- 33 Downloads
Turner syndrome has been extensively reviewed in the medical literature, yet little has been discussed regarding the skeletal manifestations. It is important to be familiar with the clinical findings and comorbid conditions in Turner syndrome, as they may be the first line of diagnosis when a patient presents for short stature, scoliosis, or slipped capital femoral epiphysis (SCFE) and if unrecognized may result in significant morbidity.
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.
KeywordsTurner syndrome SHOX Skeletal deformity Brachymetacarpia Cubitus valgus Madelung Short stature Mesomelic growth Scoliosis Brachymetatarsia
- 3.Binder G, Rappold GA. SHOX deficiency disorders. GeneReviews. 2015. https://www.ncbi.nlm.nih.gov/books/NBK1215/.
- 6.Child CJ, Kalifa G, Jones C, Ross JL, Rappold GA, Quigley CA, Zimmermann AG, Garding G, Cutler GB Jr, Blum WF. Radiological features in patients with short stature homeobox-containing (SHOX) gene deficiency and turner syndrome before and after 2 years of GH treatment. Horm Res Paediatr. 2015;84:14–25.CrossRefGoogle Scholar
- 9.Day G, Szvetki A, Griffiths L, McPhee IB, Tuffley J, LaBrom R, Askin G, Woodland P, McClosky E, Torode I, Tomlinson F. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in turner syndrome. J Orthop Res. 2009;27:807–13.CrossRefGoogle Scholar
- 11.Faienza MF, Ventura A, Colucci S, Cavallo L, Grano M, Brunetti G. Bone fragility in turner syndrome: mechanisms and prevention strategies. Front Endocrinol. 2016;7(34):1–8.Google Scholar
- 13.Gravholt CH, Lauridsen AL, Brixen K, Mosekilde L, Heickendorff L, Christiansen JS. Marked disproportionality in bone size and mineral, and distinct abnormalities in bone markers and calcitropic hormones in adult turner syndrome: a cross-sectional study. J Clin Endocrinol Metab. 2002;87(6):2798–808.CrossRefGoogle Scholar
- 17.Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of turner syndrome. J Clin Endocrinol Metab. 1999;84(12):4613–21.CrossRefGoogle Scholar
- 19.Kosowicz J. Skeletal changes in Turner’s syndrome and their significance in differential diagnosis. Polish Med Hist Sci Bull. 1959;2:23–6.Google Scholar
- 21.Morrissy RT, Weinstein SL. Lovell and Winter’s pediatric orthopaedics. 6th ed: Lippincott, Williams and Wilkins: Philadelphia, PA; 2006. p. 1184–9. (The lower extremity: knock-knees and genu valgum).Google Scholar