Skip to main content

Orthopedic Manifestations in Turner Syndrome

  • Chapter
  • First Online:
Turner Syndrome

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.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 139.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. 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.

    PubMed  Google Scholar 

  2. Beals RK. Orthopedic aspects of the XO (Turner’s) syndrome. Clin Orthop Relat Res. 1973;97:19–30.

    Article  Google Scholar 

  3. Binder G, Rappold GA. SHOX deficiency disorders. GeneReviews. 2015. https://www.ncbi.nlm.nih.gov/books/NBK1215/.

  4. Blaschke RJ, Rappold GA. SHOX: growth, Leri-Weill and Turner syndromes. Trends Endocrinol Metab. 2000;11(6):227–30.

    Article  CAS  Google Scholar 

  5. Burwell RG. Aetiology of idiopathic scoliosis: current concepts. Pediatr Rehabil. 2003;6:137–70.

    Article  CAS  Google Scholar 

  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.

    Article  CAS  Google Scholar 

  7. 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.

    Article  CAS  Google Scholar 

  8. 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.

    Article  Google 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.

    Article  CAS  Google Scholar 

  10. Elder DA, Roper MG, Henderson RC, Davenport ML. Kyphosis in a turner syndrome population. Pediatrics. 2002;109(6):1–5.

    Article  Google 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 

  12. Formosa N, Buttigieg M, Torpiano J. Congenital brachymetatarsia and Turner syndrome. Arch Dis Child. 2016;101:332.

    Article  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.

    Article  CAS  Google Scholar 

  14. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in turner syndrome. J Clin Epidemiol. 1998;51(2):147–58.

    Article  CAS  Google Scholar 

  15. 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.

    Article  Google Scholar 

  16. Kim JY, Rosenfeld SR, Keyak JH. Increased prevalence of scoliosis in turner syndrome. J Pediatr Orthop. 2001;21:765–6.

    CAS  PubMed  Google 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.

    Article  CAS  Google Scholar 

  18. Kosowicz J. Changes in the medial tibial condyle – a common finding in Turner’s syndrome. Acta Endocrinol. 1959;31:321–3.

    Article  CAS  Google 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 

  20. 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.

    Article  CAS  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 

  22. Muller G, Gschwend N. Endocrine disorders and Scheuermann’s disease. Arch Orthop Unfallchir. 1969;65:357–62.

    Article  CAS  Google Scholar 

  23. 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.

    Article  CAS  Google Scholar 

  24. Ranke MB, Saenger P. Turner’s syndrome. Lancet. 2001;358:309–14.

    Article  CAS  Google Scholar 

  25. 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.

    CAS  PubMed  Google Scholar 

  26. Roof AC, Jinguji TM, White KK. Musculoskeletal screening: developmental dysplasia of the hip. Pediatr Ann. 2013;42:229–35.

    Article  Google Scholar 

  27. 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.

    Article  CAS  Google Scholar 

  28. 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.

    Article  CAS  Google Scholar 

  29. 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.

    CAS  PubMed  Google Scholar 

  30. Stevens PM, Klatt JB. Guided growth for pathological physes: radiographic improvement during realignment. J Pediatr Orthop. 2008;28:632–9.

    Article  Google Scholar 

  31. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.

    Article  CAS  Google Scholar 

  32. 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.

    Article  Google Scholar 

  33. 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.

    Article  Google Scholar 

  34. 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.

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Klane K. White .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

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

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-34150-3_14

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-34148-0

  • Online ISBN: 978-3-030-34150-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics