Advertisement

Orthopedic Manifestations in Turner Syndrome

  • Anna M. Acosta
  • Suzanne E. Steinman
  • Klane K. WhiteEmail author
Chapter
  • 33 Downloads

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.

Keywords

Turner syndrome SHOX Skeletal deformity Brachymetacarpia Cubitus valgus Madelung Short stature Mesomelic growth Scoliosis Brachymetatarsia 

References

  1. 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.PubMedGoogle Scholar
  2. 2.
    Beals RK. Orthopedic aspects of the XO (Turner’s) syndrome. Clin Orthop Relat Res. 1973;97:19–30.CrossRefGoogle Scholar
  3. 3.
    Binder G, Rappold GA. SHOX deficiency disorders. GeneReviews. 2015. https://www.ncbi.nlm.nih.gov/books/NBK1215/.
  4. 4.
    Blaschke RJ, Rappold GA. SHOX: growth, Leri-Weill and Turner syndromes. Trends Endocrinol Metab. 2000;11(6):227–30.CrossRefGoogle Scholar
  5. 5.
    Burwell RG. Aetiology of idiopathic scoliosis: current concepts. Pediatr Rehabil. 2003;6:137–70.CrossRefGoogle Scholar
  6. 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
  7. 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.CrossRefGoogle Scholar
  8. 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.CrossRefGoogle Scholar
  9. 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
  10. 10.
    Elder DA, Roper MG, Henderson RC, Davenport ML. Kyphosis in a turner syndrome population. Pediatrics. 2002;109(6):1–5.CrossRefGoogle Scholar
  11. 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. 12.
    Formosa N, Buttigieg M, Torpiano J. Congenital brachymetatarsia and Turner syndrome. Arch Dis Child. 2016;101:332.CrossRefGoogle Scholar
  13. 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
  14. 14.
    Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in turner syndrome. J Clin Epidemiol. 1998;51(2):147–58.CrossRefGoogle Scholar
  15. 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.CrossRefGoogle Scholar
  16. 16.
    Kim JY, Rosenfeld SR, Keyak JH. Increased prevalence of scoliosis in turner syndrome. J Pediatr Orthop. 2001;21:765–6.PubMedGoogle Scholar
  17. 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
  18. 18.
    Kosowicz J. Changes in the medial tibial condyle – a common finding in Turner’s syndrome. Acta Endocrinol. 1959;31:321–3.CrossRefGoogle Scholar
  19. 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. 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.CrossRefGoogle Scholar
  21. 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. 22.
    Muller G, Gschwend N. Endocrine disorders and Scheuermann’s disease. Arch Orthop Unfallchir. 1969;65:357–62.CrossRefGoogle Scholar
  23. 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.CrossRefGoogle Scholar
  24. 24.
    Ranke MB, Saenger P. Turner’s syndrome. Lancet. 2001;358:309–14.CrossRefGoogle Scholar
  25. 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.PubMedGoogle Scholar
  26. 26.
    Roof AC, Jinguji TM, White KK. Musculoskeletal screening: developmental dysplasia of the hip. Pediatr Ann. 2013;42:229–35.CrossRefGoogle Scholar
  27. 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.CrossRefGoogle Scholar
  28. 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.CrossRefGoogle Scholar
  29. 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.PubMedGoogle Scholar
  30. 30.
    Stevens PM, Klatt JB. Guided growth for pathological physes: radiographic improvement during realignment. J Pediatr Orthop. 2008;28:632–9.CrossRefGoogle Scholar
  31. 31.
    Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351:1227–38.CrossRefGoogle Scholar
  32. 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.CrossRefGoogle Scholar
  33. 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.CrossRefGoogle Scholar
  34. 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.PubMedGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Anna M. Acosta
    • 1
  • Suzanne E. Steinman
    • 2
    • 3
  • Klane K. White
    • 2
    • 3
    Email author
  1. 1.Memorial Care and Miller Children’s and Women’s HospitalLong BeachUSA
  2. 2.Department of Orthopedics and Sports MedicineSeattle Children’s HospitalSeattleUSA
  3. 3.Department of Orthopaedics and Sports MedicineUniversity of WashingtonSeattleUSA

Personalised recommendations