Skip to main content

Generalized Disorders and Syndromes of Orthopedic Importance

  • Chapter
  • First Online:
Pediatric Orthopedic Imaging
  • 3803 Accesses

Abstract

This chapter discusses selected generalized orthopedic disorders, focusing on those that are relatively common and that are often targets of surgical intervention. The four most common subtypes of osteogenesis imperfecta are presented first, followed by discussion of neurofibromatosis. The chapter then addresses typical problems encountered in arthrogryposis, as well as Down syndrome, sickle cell disease, and the many forms of mucopolysaccharidosis. Gaucher disease is reviewed, and then several brief sections address VACTRL/VATER association, limb-body wall defects, achondroplasia, multiple epiphyseal dysplasia, pseudoachondroplasia, and brachyolmia.

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 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 249.99
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. Lachman RS. Taybi and Lachman’s radiology of syndromes, metabolic disorders and skeletal dysplasias. 5th ed. Philadelphia: Mosby Elsevier; 2007.

    Google Scholar 

  2. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011;155A(5):943–68.

    Article  PubMed  Google Scholar 

  3. Spranger JW, Brill PW, Superti-Furga A, Unger S, Nishimura G. Bone dysplasias: an atlas of genetic disorders of skeletal development. 3rd ed. New York: Oxford University Press; 2012.

    Book  Google Scholar 

  4. Schumacher R, Seaver L, Spranger J. Fetal radiology. A diagnostic atlas. Berlin: Springer; 2004.

    Book  Google Scholar 

  5. Hall CM, Offiah AC, Forzano F. Fetal and perinatal skeletal dysplasias. An atlas of multimodality imaging. London: Radcliffe Publishing Ltd; 2012.

    Google Scholar 

  6. Steiner RD, Pepin MG, Byers PH. Osteogenesis imperfecta. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene reviews. Seattle: University of Washington; 1993. Available at: http://www.ncbi.nlm.gov/books/NBK1116/. Accessed April 11, 2014.

    Google Scholar 

  7. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–85.

    Article  CAS  PubMed  Google Scholar 

  8. van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, et al. Osteogenesis imperfecta: a review with clinical examples. Mol Syndromol. 2011;2(1):1–20.

    PubMed Central  PubMed  Google Scholar 

  9. Jepsen KJ, Schaffler MB, Kuhn JL, Goulet RW, Bonadio J, Goldstein SA. Type I collagen mutation alters the strength and fatigue behavior of Mov13 cortical tissue. J Biomech. 1997;30(11–12):1141–7.

    Article  CAS  PubMed  Google Scholar 

  10. Jepsen KJ, Goldstein SA, Kuhn JL, Schaffler MB, Bonadio J. Type-I collagen mutation compromises the post-yield behavior of Mov13 long bone. J Orthop Res. 1996;14(3):493–9.

    Article  CAS  PubMed  Google Scholar 

  11. Kleinman PK. Differentiation of child abuse and osteogenesis imperfecta: medical and legal implications. AJR Am J Roentgenol. 1990;154(5):1047–8.

    Article  CAS  PubMed  Google Scholar 

  12. Carty H. Differentiation of child abuse from osteogenesis imperfecta. AJR Am J Roentgenol. 1991;156(3):635–6.

    Article  CAS  PubMed  Google Scholar 

  13. Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand. 2002;60(2):65–71.

    Article  PubMed  Google Scholar 

  14. Baljet B. Aspects of the history of osteogenesis imperfecta (Vrolik’s syndrome). Ann Anat. 2002;184(1):1–7.

    Article  CAS  PubMed  Google Scholar 

  15. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101–16.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  16. Sillence DO, Rimoin DL. Classification of osteogenesis imperfect. Lancet. 1978;1(8072):1041–2.

    Article  CAS  PubMed  Google Scholar 

  17. van Dijk FS, Pals G, van Rijn RR, Nikkels PG, Cobben JM. Classification of osteogenesis imperfecta revisited. Eur J Med Genet. 2010;53(1):1–5.

    Article  PubMed  Google Scholar 

  18. Byers PH, Wallis GA, Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet. 1991;28(7):433–42.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  19. Marini JC, Forlino A, Cabral WA, Barnes AM, San Antonio JD, Milgrom S, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28(3):209–21.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  20. Wallis GA, Sykes B, Byers PH, Mathew CG, Viljoen D, Beighton P. Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. J Med Genet. 1993;30(6):492–6.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  21. Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet. 2007;39(3):359–65.

    Article  CAS  PubMed  Google Scholar 

  22. Bellary SS, Steinberg A, Mirzayan N, Shirak M, Tubbs RS, Cohen Gadol AA, et al. Wormian bones: a review. Clin Anat. 2013;26:922–7.

    Article  PubMed  Google Scholar 

  23. Dent JA, Paterson CR. Fractures in early childhood: osteogenesis imperfecta or child abuse? J Pediatr Orthop. 1991;11(2):184–6.

    Article  CAS  PubMed  Google Scholar 

  24. Carty H, Brunelle F, Stringer DA, Kao SCS, editors. Imaging children. 2nd ed. Edinburgh: Elsevier Churchill Livingstone; 2005.

    Google Scholar 

  25. Goldman AB, Davidson D, Pavlov H, Bullough PG. “Popcorn” calcifications: a prognostic sign in osteogenesis imperfecta. Radiology. 1980;136(2):351–8.

    Article  CAS  PubMed  Google Scholar 

  26. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15(9):1650–8.

    Article  CAS  PubMed  Google Scholar 

  27. Banta JV, Schreiber RR, Kulik WJ. Hyperplastic callus formation in osteogenesis imperfecta simulating osteosarcoma. J Bone Joint Surg Am. 1971;53(1):115–22.

    CAS  PubMed  Google Scholar 

  28. Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, et al. Osteoprotegerin deficiency and juvenile Paget’s disease. N Engl J Med. 2002;347(3):175–84.

    Article  CAS  PubMed  Google Scholar 

  29. Kemp AM, Dunstan F, Harrison S, Morris S, Mann M, Rolfe K, et al. Patterns of skeletal fractures in child abuse: systematic review. BMJ. 2008;337:a1518.

    Article  PubMed Central  PubMed  Google Scholar 

  30. Binkovitz LA, Sparke P, Henwood MJ. Pediatric DXA: clinical applications. Pediatr Radiol. 2007;37(7):625–35.

    Article  PubMed Central  PubMed  Google Scholar 

  31. Uhlmann E, Plotkin S. Neurofibromatosis. In: Ahmad SI, editor. Neurodegenerative diseases. New York: Landes Bioscience and Springer Science+Business Media; 2012.

    Google Scholar 

  32. Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet. 1989;26(11):704–11.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  33. Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141(1):71–4.

    Article  PubMed  Google Scholar 

  34. Bollag G, McCormick F, Clark R. Characterization of full-length neurofibromin: tubulin inhibits Ras GAP activity. EMBO J. 1993;12(5):1923–7.

    CAS  PubMed Central  PubMed  Google Scholar 

  35. Legius E, Marchuk DA, Collins FS, Glover TW. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet. 1993;3(2):122–6.

    Article  CAS  PubMed  Google Scholar 

  36. Jouhilahti EM, Peltonen S, Heape AM, Peltonen J. The pathoetiology of neurofibromatosis 1. Am J Pathol. 2011;178(5):1932–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  37. Melean G, Sestini R, Ammannati F, Papi L. Genetic insights into familial tumors of the nervous system. Am J Med Genet C Semin Med Genet. 2004;129C(1):74–84.

    Article  PubMed  Google Scholar 

  38. Evans DG, Baser ME, McGaughran J, Sharif S, Howard E, Moran A. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J Med Genet. 2002;39(5):311–4.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  39. Evans DG. Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II]. Genet Med. 2009;11(9):599–610.

    Article  PubMed  Google Scholar 

  40. Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, et al. Predictors of the risk of mortality in neurofibromatosis 2. Am J Hum Genet. 2002;71(4):715–23.

    Article  PubMed Central  PubMed  Google Scholar 

  41. Patel NB, Stacy GS. Musculoskeletal manifestations of neurofibromatosis type 1. AJR Am J Roentgenol. 2012;199(1):W99–106.

    Article  PubMed  Google Scholar 

  42. Winter RB, Moe JH, Bradford DS, Lonstein JE, Pedras CV, Weber AH. Spine deformity in neurofibromatosis. A review of one hundred and two patients. J Bone Joint Surg Am. 1979;61(5):677–94.

    CAS  PubMed  Google Scholar 

  43. Scott JC. Scoliosis and neurofibromatosis. J Bone Joint Surg Br. 1965;47:240–6.

    CAS  PubMed  Google Scholar 

  44. Calvert PT, Edgar MA, Webb PJ. Scoliosis in neurofibromatosis. The natural history with and without operation. J Bone Joint Surg Br. 1989;71(2):246–51.

    CAS  PubMed  Google Scholar 

  45. Ramachandran M, Tsirikos AI, Lee J, Saifuddin A. Whole-spine magnetic resonance imaging in patients with neurofibromatosis type 1 and spinal deformity. J Spinal Disord Tech. 2004;17(6):483–91.

    Article  PubMed  Google Scholar 

  46. Ton J, Stein-Wexler R, Yen P, Gupta M. Rib head protrusion into the central canal in type 1 neurofibromatosis. Pediatr Radiol. 2010;40(12):1902–9.

    Article  PubMed Central  PubMed  Google Scholar 

  47. Hall JG. Arthrogryphosis. In: Management of genetic syndromes. 2nd ed. Hoboken: Wiley; 2005. p. 63–75.

    Google Scholar 

  48. Lowry RB, Sibbald B, Bedard T, Hall JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1057–61.

    Article  CAS  PubMed  Google Scholar 

  49. Sarwark JF, MacEwen GD, Scott Jr CI. Amyoplasia (a common form of arthrogryposis). J Bone Joint Surg Am. 1990;72(3):465–9.

    CAS  PubMed  Google Scholar 

  50. Hall JG. Arthrogryposes (multiple congenital contractures). In: Principles and practice of medical genetics, vol. 3. 5th ed. Philadelphia: Churchill Livingstone–Elsevier; 2007. p. 3785–856.

    Google Scholar 

  51. Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop. 2007;27(5):594–600.

    Article  PubMed  Google Scholar 

  52. Wynne-Davies R, Williams PF, O’Connor JC. The 1960s epidemic of arthrogryposis multiplex congenita: a survey from the United Kingdom, Australia and the United States of America. J Bone Joint Surg Br. 1981;63-B(1):76–82.

    CAS  PubMed  Google Scholar 

  53. Daher YH, Lonstein JE, Winter RB, Moe JH. Spinal deformities in patients with arthrogryposis. A review of 16 patients. Spine (Phila Pa 1976). 1985;10(7):609–13.

    Article  CAS  Google Scholar 

  54. Megarbane A, Ravel A, Mircher C, Sturtz F, Grattau Y, Rethore MO, et al. The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome. Genet Med. 2009;11(9):611–6.

    Article  PubMed  Google Scholar 

  55. American Academy of Pediatrics Committee on Genetics. American Academy of Pediatrics: health supervision for children with Down syndrome. Pediatrics. 2001;107(2):442–9.

    Article  Google Scholar 

  56. Caird MS, Wills BP, Dormans JP. Down syndrome in children: the role of the orthopaedic surgeon. J Am Acad Orthop Surg. 2006;14(11):610–9.

    PubMed  Google Scholar 

  57. Shaw ED, Beals RK. The hip joint in Down’s syndrome. A study of its structure and associated disease. Clin Orthop Relat Res. 1992;278:101–7.

    PubMed  Google Scholar 

  58. Rees DC, Williams TN, Gladwin MT. Sickle-cell disease. Lancet. 2010;376(9757):2018–31.

    Article  CAS  PubMed  Google Scholar 

  59. Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–7.

    Article  PubMed Central  PubMed  Google Scholar 

  60. Ejindu VC, Hine AL, Mashayekhi M, Shorvon PJ, Misra RR. Musculoskeletal manifestations of sickle cell disease. Radiographics. 2007;27(4):1005–21.

    Article  PubMed  Google Scholar 

  61. Poupetova H, Ledvinova J, Berna L, Dvorakova L, Kozich V, Elleder M. The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis. 2010;33(4):387–96.

    Article  PubMed Central  PubMed  Google Scholar 

  62. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 Suppl 5:v4–12.

    Article  CAS  Google Scholar 

  63. White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 Suppl 5:v26–33.

    Article  Google Scholar 

  64. Weisstein JS, Delgado E, Steinbach LS, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004;24(1):97–101.

    Article  PubMed  Google Scholar 

  65. Lachman R, Martin KW, Castro S, Basto MA, Adams A, Teles EL. Radiologic and neuroradiologic findings in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3(2):109–18.

    PubMed  Google Scholar 

  66. Brady RO. Gaucher’s disease: past, present and future. Baillieres Clin Haematol. 1997;10(4):621–34.

    Article  CAS  PubMed  Google Scholar 

  67. Katz R, Booth T, Hargunani R, Wylie P, Holloway B. Radiological aspects of Gaucher disease. Skeletal Radiol. 2011;40(12):1505–13.

    Article  PubMed  Google Scholar 

  68. Somaraju UR, Tadepalli K. Hematopoietic stem cell transplantation for Gaucher disease. Cochrane Database Syst Rev. 2012;7:CD006974.

    PubMed  Google Scholar 

  69. Beutler E. Gaucher disease: multiple lessons from a single gene disorder. Acta Paediatr Suppl. 2006;95(451):103–9.

    Article  PubMed  Google Scholar 

  70. McHugh K, Olsen EOE, Vellodi A. Gaucher disease in children: radiology of non-central nervous system manifestations. Clin Radiol. 2004;59(2):117–23.

    Article  CAS  PubMed  Google Scholar 

  71. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis. 2011;6:56.

    Article  PubMed Central  PubMed  Google Scholar 

  72. Hunter AG, Seaver LH, Stevenson RE. Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? Am J Med Genet A. 2011;155A(9):2045–59.

    Article  PubMed  Google Scholar 

  73. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129–34.

    Article  CAS  PubMed  Google Scholar 

  74. Chitty LS, Griffin DR, Meaney C, Barrett A, Khalil A, Pajkrt E, et al. New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. Ultrasound Obstet Gynecol. 2011;37(3):283–9.

    Article  CAS  PubMed  Google Scholar 

  75. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: relation to fibular overgrowth. J Bone Joint Surg Br. 2007;89(1):57–61.

    Article  CAS  PubMed  Google Scholar 

  76. Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 2012;33(1):144–57.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  77. Nemec SF, Cohn DH, Krakow D, Funari VA, Rimoin DL, Lachman RS. The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family). Pediatr Radiol. 2012;42(1):15–23.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Karen Rosendahl MD, PhD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Rosendahl, K. (2015). Generalized Disorders and Syndromes of Orthopedic Importance. In: Stein-Wexler, R., Wootton-Gorges, S., Ozonoff, M. (eds) Pediatric Orthopedic Imaging. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-45381-6_23

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-45381-6_23

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-45380-9

  • Online ISBN: 978-3-642-45381-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics