Skip to main content
SpringerLink
Log in
Book cover

Congenital Anomalies of the Upper Extremity pp 335–347Cite as

General Skeletal Disorders

  • Chapter
  • First Online:

  • 1722 Accesses

Abstract

Generalized skeletal anomalies are seen in numerous skeletal dysplasias, congenital syndromes, and various other inherited and un-inherited conditions. With an emphasis on the upper extremity, this chapter discusses the background, genetics, classification, characterization, and management of a variety of these disorders. Those conditions with an in-depth description include osteogenesis imperfecta, Marfan syndrome, achondroplasia, multiple hereditary exostoses/osteochondromas, fibrous dysplasia, and enchondromas/Ollier’s disease/Maffucci’s syndrome. Various other dysplasias, syndromes, and other genetic conditions that involve skeletal abnormalities are presented in a table. The table provides a brief description, the genetics, natural history, and treatment possibilities of these various conditions.

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

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   149.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   199.00
Price excludes VAT (USA)
  • Compact, lightweight 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

Learn about institutional subscriptions

References

  1. Kocher MS, Shapiro F. Osteogenesis imperfecta. J Am Acad Orthop Surg. 1998;6(4):225–36. PubMed PMID: 9682085.

    CAS  PubMed  Google Scholar 

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

    Google Scholar 

  3. Burnei G, Vlad C, Georgescu I, Gavriliu TS, Dan D. Osteogenesis imperfecta: diagnosis and treatment. J Am Acad Orthop Surg. 2008;16(6):356–66. PubMed PMID: 18524987.

    PubMed  Google Scholar 

  4. Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta: current concepts. Curr Opin Pediatr. 2008;20(1):52–7. PubMed PMID: 18197039.

    Article  PubMed  Google Scholar 

  5. Cheung MS, Glorieux FH. Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord. 2008;9(2):153–60. PubMed PMID: 18404382.

    Article  PubMed  Google Scholar 

  6. Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg. 2009;17(9):572–81. PubMed PMID: 19726741.

    PubMed  Google Scholar 

  7. Dietz HC. Marfan syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993.

    Google Scholar 

  8. Bolar N, Van Laer L, Loeys BL. Marfan syndrome: from gene to therapy. Curr Opin Pediatr. 2012;24(4):498–504. PubMed PMID: 22705998.

    Article  CAS  PubMed  Google Scholar 

  9. Watt AJ, Chung KC. Generalized skeletal abnormalities. Hand Clin. 2009;25(2):265–76. PubMed PMID: 19380065.

    Article  PubMed  Google Scholar 

  10. Marie-Josee Paris P, Marie Jose Benjamin O, Gayle Lang O, Reg Wilcox P. Standard of care: Marfan syndrome. 2009.

    Google Scholar 

  11. Gomes N, Hardy P, Bauer T. Arthroscopic treatment of chronic anterior instability of the shoulder in Marfan’s syndrome. Arthroscopy. 2007;23(1):110 e1–5. PubMed PMID: 17210441.

    Article  Google Scholar 

  12. Baujat G, Legeai-Mallet L, Finidori G, Cormier-Daire V, Le Merrer M. Achondroplasia. Best Pract Res Clin Rheumatol. 2008;22(1):3–18. PubMed PMID: 18328977.

    Article  CAS  PubMed  Google Scholar 

  13. Horton WA, Hall JG, Hecht JT. Achondroplasia Lancet. 2007;370(9582):162–72. PubMed PMID: 17630040.

    Article  CAS  Google Scholar 

  14. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231–41. PubMed PMID: 19307672.

    PubMed  Google Scholar 

  15. Amirfeyz R, Gargan M. Achondroplasia. Curr Orthop. 2005;19(6):467–70.

    Article  Google Scholar 

  16. Pawar AY, McCoy Jr TH, Fragomen AT, Rozbruch SR. Does humeral lengthening with a monolateral frame improve function? Clin Orthop Relat Res. 2013;471(1):277–83. PubMed PMID: 22926491. Pubmed Central PMCID: 3528891.

    Article  PubMed Central  PubMed  Google Scholar 

  17. Hanson AA. Improving mobility in a client with hypochondroplasia (dwarfism): a case report. J Bodyw Mov Ther. 2010;14(2):172–8. PubMed PMID: 20226364.

    Article  PubMed  Google Scholar 

  18. Alanay Y, Lachman RS. A review of the principles of radiological assessment of skeletal dysplasias. J Clin Res Pediatr Endocrinol. 2011;3(4):163–78. PubMed PMID: 22155458. Pubmed Central PMCID: 3245489.

    Article  PubMed Central  PubMed  Google Scholar 

  19. Mankin HJ, Jupiter J, Trahan CA. Hand and foot abnormalities associated with genetic diseases. Hand. 2011;6(1):18–26. PubMed PMID: 22379434. Pubmed Central PMCID: 3041879.

    Article  PubMed Central  PubMed  Google Scholar 

  20. Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, et al. New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. Am J Med Genet A. 2012;158A(10):2456–62. PubMed PMID: 22903874.

    Article  PubMed  Google Scholar 

  21. Briggs MD, Wright MJ. Pseudoachondroplasia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993.

    Google Scholar 

  22. 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. PubMed PMID: 21922596. Pubmed Central PMCID: 3272220.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  23. Li QW, Song HR, Mahajan RH, Suh SW, Lee SH. Deformity correction with external fixator in pseudoachondroplasia. Clin Orthop Relat Res. 2007;454:174–9. PubMed PMID: 16957646.

    Article  PubMed  Google Scholar 

  24. 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. PubMed PMID: 21438135. Pubmed Central PMCID: 3166781.

    Article  PubMed  Google Scholar 

  25. Carter EM, Davis JG, Raggio CL. Advances in understanding etiology of achondroplasia and review of management. Curr Opin Pediatr. 2007;19(1):32–7. PubMed PMID: 17224659.

    Article  PubMed  Google Scholar 

  26. Lovell WW, Winter RB, Morrissy RT, Weinstein SLV. Lovell and Winter’s pediatric orthopaedics. 4th ed. Philadelphia, PA: Lippincott-Raven; 1996.

    Google Scholar 

  27. Martinez-Frias ML, Egues X, Puras A, Hualde J, de Frutos CA, Bermejo E, et al. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: insights into its pathogenesis. Am J Med Genet A. 2011;155A(1):197–202. PubMed PMID: 21204232.

    Article  CAS  PubMed  Google Scholar 

  28. Miller E, Blaser S, Shannon P, Widjaja E. Brain and bone abnormalities of thanatophoric dwarfism. AJR Am J Roentgenol. 2009;192(1):48–51. PubMed PMID: 19098178.

    Article  PubMed  Google Scholar 

  29. Karczeski B, Cutting GR. Thanatophoric dysplasia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993.

    Google Scholar 

  30. Watson S. The principles of management of congenital anomalies of the upper limb. Arch Dis Child. 2000;83(1):10–7. PubMed PMID: 10868991. Pubmed Central PMCID: 1718383.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  31. Renaud A, Aucourt J, Weill J, Bigot J, Dieux A, Devisme L, et al. Radiographic features of osteogenesis imperfecta. Insights Imaging. 2013;4(4):417–29. PubMed PMID: 23686748. Pubmed Central PMCID: 3731461.

    Article  PubMed Central  PubMed  Google Scholar 

  32. Heckman DS, McCoy AJ, Spritzer CE, Garrett WE. Intercondylar synovial septum in two patients with nail-patella syndrome. J Knee Surg. 2013;26 Suppl 1:S107–11. PubMed PMID: 23288746.

    PubMed  Google Scholar 

  33. Bonafe L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Diastrophic Dysplasia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle, WA: University of Washington, Seattle; 1993.

    Google Scholar 

  34. Crockett MM, Carten MF, Hurko O, Sponseller PD. Motor milestones in children with diastrophic dysplasia. J Pediatr Orthop. 2000;20(4):437–41. PubMed PMID: 10912597.

    CAS  PubMed  Google Scholar 

  35. Honorio JC, Bruns RF, Grundtner LF, Raskin S, Ferrari LP, Araujo Junior E, et al. Diastrophic dysplasia: prenatal diagnosis and review of the literature. Sao Paulo Med J. 2013;131(2):127–32.

    PubMed  Google Scholar 

  36. Kruger L, Pohjolainen T, Kaitila I, Kautiainen H, Arkela-Kautiainen M, Hurri H. Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland. J Rehabil Med. 2013;45(3):308–13. PubMed PMID: 23389768.

    Article  PubMed  Google Scholar 

  37. Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatr. 2007;44(12):931–3. PubMed PMID: 18175850.

    PubMed  Google Scholar 

  38. Campos Junior W, Cardoso RM, Fidelis R, Silva ES, Ramos R. A familial case of cleidocranial dysostosis presenting upper limb ischemia. Sao Paulo Med J. 2005;123(6):292–4.

    Article  PubMed  Google Scholar 

  39. Wasserstein M, Godbold J, McGovern MM. Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. J Inherit Metab Dis. 2013;36(1):123–7. PubMed PMID: 22718274.

    Article  CAS  PubMed  Google Scholar 

  40. Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol. 2008;22(5):937–47. PubMed PMID: 19028373.

    Article  CAS  PubMed  Google Scholar 

  41. White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology. 2011;50 Suppl 5:v26–33. PubMed PMID: 22210667.

    Article  PubMed  Google Scholar 

  42. White KK, Sousa T. Mucopolysaccharide disorders in orthopaedic surgery. J Am Acad Orthop Surg. 2013;21(1):12–22. PubMed PMID: 23281467.

    Article  PubMed  Google Scholar 

  43. Jones KB. Glycobiology and the growth plate: current concepts in multiple hereditary exostoses. J Pediatr Orthop. 2011;31(5):577–86. PubMed PMID: 21654469. Pubmed Central PMCID: 3111916.

    Article  PubMed Central  PubMed  Google Scholar 

  44. Jager M, Westhoff B, Portier S, Leube B, Hardt K, Royer-Pokora B, et al. Clinical outcome and genotype in patients with hereditary multiple exostoses. J Orthop Res. 2007;25(12):1541–51. PubMed PMID: 17676624.

    Article  PubMed  Google Scholar 

  45. Hickey J, Lemons D, Waber P, Seikaly MG. Bisphosphonate use in children with bone disease. J Am Acad Orthop Surg. 2006;14(12):638–44. PubMed PMID: 17077335.

    PubMed  Google Scholar 

  46. Celletti C, Castori M, La Torre G, Camerota F. Evaluation of kinesiophobia and its correlations with pain and fatigue in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type. Biomed Res Int. 2013;2013:580460. PubMed PMID: 23936820. Pubmed Central PMCID: 3725998.

    Article  PubMed Central  PubMed  Google Scholar 

  47. Karaa A, Stoler JM. Ehlers Danlos syndrome: an unusual presentation you need to know about. Case Rep Pediatr. 2013;2013:764659. PubMed PMID: 23762718. Pubmed Central PMCID: 3670523.

    PubMed Central  PubMed  Google Scholar 

  48. Miyoshi K, Nakamura K, Haga N, Mikami Y. Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine. 2004;29(21):E488–91. PubMed PMID: 15507788.

    Article  PubMed  Google Scholar 

  49. Dahlqvist J, Orlen H, Matsson H, Dahl N, Lonnerholm T, Gustavson KH. Multiple epiphyseal dysplasia. Acta Orthop. 2009;80(6):711–5. PubMed PMID: 19995321. Pubmed Central PMCID: 2823319.

    Article  PubMed Central  PubMed  Google Scholar 

  50. Bajuifer S, Letts M. Multiple epiphyseal dysplasia in children: beware of overtreatment! Can J Surg. 2005;48(2):106–9. PubMed PMID: 15887789. Pubmed Central PMCID: 3211600035.

    PubMed Central  PubMed  Google Scholar 

  51. Taketomi S, Hiraoka H, Nakagawa T, Miyamoto Y, Kuribayashi S, Fukuda A, et al. Osteochondral autograft for medial femoral condyle chondral lesions in a patient with multiple epiphyseal dysplasia: long-term result. J Orthop Sci. 2012;17(4):507–11. PubMed PMID: 21559955.

    Article  PubMed  Google Scholar 

  52. Lachman RS, Krakow D, Cohn DH, Rimoin DL. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia. Pediatr Radiol. 2005;35(2):116–23. PubMed PMID: 15503005.

    Article  PubMed  Google Scholar 

  53. Malfait F, De Coster P, Hausser I, van Essen AJ, Franck P, Colige A, et al. The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC). Am J Med Genet A. 2004;131(1):18–28. PubMed PMID: 15389701.

    Article  PubMed  Google Scholar 

  54. Tiller GE, Hannig VL. X-linked spondyloepiphyseal dysplasia tarda. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. GeneReviews. Seattle, WA: University of Washington Seattle; 1993.

    Google Scholar 

  55. Camera A, Camera G. Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height. Am J Med Genet A. 2003;122A(2):159–63. PubMed PMID: 12955769.

    Article  PubMed  Google Scholar 

  56. Bickels J, Wittig JC, Kollender Y, Kellar-Graney K, Mansour KL, Meller I, et al. Enchondromas of the hand: treatment with curettage and cemented internal fixation. J Hand Surg. 2002;27(5):870–5. PubMed PMID: 12239678.

    Article  Google Scholar 

  57. Sassoon AA, Fitz-Gibbon PD, Harmsen WS, Moran SL. Enchondromas of the hand: factors affecting recurrence, healing, motion, and malignant transformation. J Hand Surg. 2012;37(6):1229–34. PubMed PMID: 22542061.

    Article  Google Scholar 

  58. Marco RA, Gitelis S, Brebach GT, Healey JH. Cartilage tumors: evaluation and treatment. J Am Acad Orthop Surg. 2000;8(5):292–304. PubMed PMID: 11029557.

    CAS  PubMed  Google Scholar 

  59. Plate AM, Lee SJ, Steiner G, Posner MA. Tumorlike lesions and benign tumors of the hand and wrist. J Am Acad Orthop Surg. 2003;11(2):129–41. PubMed PMID: 12670139.

    PubMed  Google Scholar 

  60. Yasuda M, Masada K, Takeuchi E. Treatment of enchondroma of the hand with injectable calcium phosphate bone cement. J Hand Surg. 2006;31(1):98–102. PubMed PMID: 16443112.

    Article  Google Scholar 

  61. Pannier S, Legeai-Mallet L. Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol. 2008;22(1):45–54. PubMed PMID: 18328980.

    Article  CAS  PubMed  Google Scholar 

  62. Popkov D, Journeau P, Popkov A, Haumont T, Lascombes P. Ollier’s disease limb lenghtening: should intramedullary nailing be combined with circular external fixation? Orthop Traumatol Surg Res. 2010;96(4):348–53. PubMed PMID: 20472523.

    Article  CAS  PubMed  Google Scholar 

  63. Tomlinson PJ, Turner J, Monsell FP. The distribution of enchondromata in the hands of patients with Ollier’s disease. J Hand Surg Eur Vol. 2010;35(2):154–5. PubMed PMID: 20118132.

    Article  CAS  PubMed  Google Scholar 

  64. Kashima TG, Gamage NM, Ye H, Amary MF, Flanagan AM, Ostlere SJ, et al. Locally aggressive fibrous dysplasia. Virchows Arch. 2013;463(1):79–84. PubMed PMID: 23760783.

    Article  CAS  PubMed  Google Scholar 

  65. Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD. Fibrous dysplasia. J Am Acad Orthop Surg. 2004;12(5):305–13. PubMed PMID: 15469225.

    PubMed  Google Scholar 

  66. Stanton RP, Ippolito E, Springfield D, Lindaman L, Wientroub S, Leet A. The surgical management of fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7 Suppl 1:S1. PubMed PMID: 22640754. Pubmed Central PMCID: 3359959.

    Article  PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Orthopedics and Rehabilitation, University of Vermont/Fletcher Allen Health Care, 192 Tilley Drive, South Burlington, VT, 05445, USA

    Jennifer W. Lisle M.D.

  2. Department of Orthopaedics and Rehabilitation, Fletcher Allen Health Care, University of Vermont College of Medicine, Robert T. Stafford Hall, 4th Floor, 95 Carrigan Drive, Burlington, VT, 05405-0084, USA

    Alex C. Lesiak M.S., M.D.

  3. Department of Medicine, Fletcher Allen Health Care, 111 Colchester Avenue, Burlington, VT, 05401, USA

    Lauren E. Fonseca B.A.

Authors
  1. Jennifer W. Lisle M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Alex C. Lesiak M.S., M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Lauren E. Fonseca B.A.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jennifer W. Lisle M.D. .

Editor information

Editors and Affiliations

  1. Fletcher Allen Health Care and Vermont Children’s Hospital, Departments of Surgery and Pediatrics, University of Vermont School of Medicine, Burlington, Vermont, USA

    Donald R. Laub Jr.

Rights and permissions

Reprints and permissions

Copyright information

© 2015 Springer Science+Business Media New York

About this chapter

Cite this chapter

Lisle, J.W., Lesiak, A.C., Fonseca, L.E. (2015). General Skeletal Disorders. In: Laub Jr., D. (eds) Congenital Anomalies of the Upper Extremity. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7504-1_26

Download citation

  • DOI: https://doi.org/10.1007/978-1-4899-7504-1_26

  • Published:

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4899-7503-4

  • Online ISBN: 978-1-4899-7504-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation