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.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
References
Kocher MS, Shapiro F. Osteogenesis imperfecta. J Am Acad Orthop Surg. 1998;6(4):225–36. PubMed PMID: 9682085.
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.
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.
Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta: current concepts. Curr Opin Pediatr. 2008;20(1):52–7. PubMed PMID: 18197039.
Cheung MS, Glorieux FH. Osteogenesis imperfecta: update on presentation and management. Rev Endocr Metab Disord. 2008;9(2):153–60. PubMed PMID: 18404382.
Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg. 2009;17(9):572–81. PubMed PMID: 19726741.
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.
Bolar N, Van Laer L, Loeys BL. Marfan syndrome: from gene to therapy. Curr Opin Pediatr. 2012;24(4):498–504. PubMed PMID: 22705998.
Watt AJ, Chung KC. Generalized skeletal abnormalities. Hand Clin. 2009;25(2):265–76. PubMed PMID: 19380065.
Marie-Josee Paris P, Marie Jose Benjamin O, Gayle Lang O, Reg Wilcox P. Standard of care: Marfan syndrome. 2009.
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.
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.
Horton WA, Hall JG, Hecht JT. Achondroplasia Lancet. 2007;370(9582):162–72. PubMed PMID: 17630040.
Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231–41. PubMed PMID: 19307672.
Amirfeyz R, Gargan M. Achondroplasia. Curr Orthop. 2005;19(6):467–70.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Lovell WW, Winter RB, Morrissy RT, Weinstein SLV. Lovell and Winter’s pediatric orthopaedics. 4th ed. Philadelphia, PA: Lippincott-Raven; 1996.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatr. 2007;44(12):931–3. PubMed PMID: 18175850.
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.
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.
Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol. 2008;22(5):937–47. PubMed PMID: 19028373.
White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology. 2011;50 Suppl 5:v26–33. PubMed PMID: 22210667.
White KK, Sousa T. Mucopolysaccharide disorders in orthopaedic surgery. J Am Acad Orthop Surg. 2013;21(1):12–22. PubMed PMID: 23281467.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Pannier S, Legeai-Mallet L. Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol. 2008;22(1):45–54. PubMed PMID: 18328980.
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.
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.
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.
Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD. Fibrous dysplasia. J Am Acad Orthop Surg. 2004;12(5):305–13. PubMed PMID: 15469225.
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.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights 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)