Abstract
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.
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References
Ahn UM, Ahn NU, Nallamshetty L, Buchowski JM, Rose PS, Miller NH, Kostuik JP, Sponseller PD. The etiology of adolescent idiopathic scoliosis. Am J Orthop. 2002;31:387–95.
Beals RK. Orthopedic aspects of the XO (Turner’s) syndrome. Clin Orthop Relat Res. 1973;97:19–30.
Binder G, Rappold GA. SHOX deficiency disorders. GeneReviews. 2015. https://www.ncbi.nlm.nih.gov/books/NBK1215/.
Blaschke RJ, Rappold GA. SHOX: growth, Leri-Weill and Turner syndromes. Trends Endocrinol Metab. 2000;11(6):227–30.
Burwell RG. Aetiology of idiopathic scoliosis: current concepts. Pediatr Rehabil. 2003;6:137–70.
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.
Clement-Jones M, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in turner syndrome. Hum Mole Genet. 2000;9(5):695–702.
Davenport ML, Punyasavatsut N, Gunther D, Savendahl L, Stewart PW. Turner syndrome: a pattern of early growth failure. Acta Paediatr Suppl. 1999;433:118–21.
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.
Elder DA, Roper MG, Henderson RC, Davenport ML. Kyphosis in a turner syndrome population. Pediatrics. 2002;109(6):1–5.
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.
Formosa N, Buttigieg M, Torpiano J. Congenital brachymetatarsia and Turner syndrome. Arch Dis Child. 2016;101:332.
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.
Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in turner syndrome. J Clin Epidemiol. 1998;51(2):147–58.
Harley BJ, Brown C, Cummings K, Carter PR, Ezaki M. Volar ligament release and distal radial dome osteotomy for the correction of Madelung deformity. J Hand Surg Am. 2006;31(9):1499–506.
Kim JY, Rosenfeld SR, Keyak JH. Increased prevalence of scoliosis in turner syndrome. J Pediatr Orthop. 2001;21:765–6.
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.
Kosowicz J. Changes in the medial tibial condyle – a common finding in Turner’s syndrome. Acta Endocrinol. 1959;31:321–3.
Kosowicz J. Skeletal changes in Turner’s syndrome and their significance in differential diagnosis. Polish Med Hist Sci Bull. 1959;2:23–6.
Landin-Wilhelmsen K, Bryman I, Windh M, Wilhelmsen L. Osteoporosis and fractures in turner syndrome – importance of growth promoting and oestrogen therapy. Clin Endocrinol. 1999;51:497–502.
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).
Muller G, Gschwend N. Endocrine disorders and Scheuermann’s disease. Arch Orthop Unfallchir. 1969;65:357–62.
Preger L, Steinbach HL, Moskowitz P, Scully AL, Goldberg MB. Roentgenographic abnormalities in phenotypic females with gonadal dysgenesis. AJR Am J Roentgenol. 1968;104:899–910.
Ranke MB, Saenger P. Turner’s syndrome. Lancet. 2001;358:309–14.
Ricotti S, Petrucci L, Carenzio G, Klersy C, Calaterra V, Larizza D, Toffola FD. Prevalence and incidence of scoliosis in Turner syndrome: a study in 49 girls followed-up for 4 years. Eur J Phys Rehabil Med. 2011;47:447–53.
Roof AC, Jinguji TM, White KK. Musculoskeletal screening: developmental dysplasia of the hip. Pediatr Ann. 2013;42:229–35.
Ross J, Scott C, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn A. Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab. 2001;86(12):5674–80.
Ross J, Kowal K, Quigley C, Blum W, Cutler G, Crowe B, Hovanes K, Elder F, Zinn A. The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr. 2005;147(4):499–507.
Saenger P, Albertsson Wikland K, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab. 2001;86:3061–9.
Stevens PM, Klatt JB. Guided growth for pathological physes: radiographic improvement during realignment. J Pediatr Orthop. 2008;28:632–9.
Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.
Tauber M, Lounis N, Coulet J, Baunin C, Cahuzac JP, Rochiccioli P. Wrist anomalies in turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome. Eur J Pediatr. 2004;163:475–81.
Vickers D, Nielsen G. Madelung deformity: surgical prophylaxis (physiolysis) during the late growth period by restriction of the dyschondrosteosis lesion. J Hand Surg Br. 1992;17(4):410–07.
Wang ED, Drummond DS, Dormans JP, Moshang T, Davidson RS, Gruccio D. Scoliosis in patients treated with growth hormone. J Pediatr Orthop. 1997;17:708–11.
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Acosta, A.M., Steinman, S.E., White, K.K. (2020). Orthopedic Manifestations in Turner Syndrome. In: Fechner, P. (eds) Turner Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-34150-3_14
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DOI: https://doi.org/10.1007/978-3-030-34150-3_14
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