European Journal of Radiology
Volume 40, Issue 3 , Pages 208-217 , December 2001

Hereditary multiple exostoses: from genetics to clinical syndrome and complications

  • Filip M Vanhoenacker

      Affiliations

    • Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium
    • Corresponding Author InformationCorresponding author. Tel.: +32-3-821-3532; fax: +32-3-825-2026
    • ,
  • Wim Van Hul

      Affiliations

    • Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium
    • ,
  • Wim Wuyts

      Affiliations

    • Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium
    • ,
  • P.J Willems

      Affiliations

    • Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands
    • ,
  • Arthur M De Schepper

      Affiliations

    • Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium

Received 16 July 2001 ,Revised 17 July 2001 ,Accepted 18 July 2001.

References 

  1. Wuyts W, Van Hul W, De Boule K, Hendrickx J, Bakker E, Vanhoenacker F, et al. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am. J. Hum. Genet. 1998;62:346–354
  2. Van Herreweghe W, De Schepper A. Generalized, hereditary, familial exostosis. J. Belg. Radiol. 1966;49:61–64
  3. Murphey MD, Choi JJ, Kransdorf MJ, Flemming DJ, Gannon FH. Imaging of osteochondroma: variants and complications with radiologic–pathologic correlation. Radiographics. 2000;20:1407–1434
  4. Cook A, Raskind W, Blanton SH, Pauli RM, Gregg RG, Francomano CA, et al. Genetic heterogeneity in families with hereditary multiple exostoses. Am. J. Hum. Genet. 1993;53:71–79
  5. Wu YQ, Heutink P, de Vries B, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, et al. Assignment of a second locus for multiple exostoses to the pericentomeric region of chromosome 11. Hum. Mol. Genet. 1994;3:167–171
  6. Wuyts W, Ramlakhan S, Van Hul W, Hecht JT, van den Ouweland AM, Raskind WH, et al. Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome, 11. Am. J. Hum. Genet. 1995;57:382–387
  7. Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schizel A, Plauchu H, et al. A gene for hereditary multiple exostoses maps to chromosome 19p. Hum. Mol. Genet. 1994;3:717–722
  8. Karasick D, Schweitzer ME, Eschelman DJ. Symptomatic osteochondromas: imaging features. Am. J. Roentgenol. 1997;168:1507–1512
  9. Greenfield GB. Hereditary multiple exostoses (diaphysael aclasis). In:  Greenfield GB editors. Radiology of bone diseases. Philadelphia: Lippincott; 1990;p. 672–678
  10. Resnick D, Kyriakos M, Greenway GD. Osteochondroma. In:  Resnick D editors. 3rd ed.. Diagnosis of bone and joint disorders. 5:Philadelphia, PA: Saunders; 1995;p. 3725–3746
  11. Legeai-Mallet L, Munnich A, Maroteaux P, Le Merrer M. Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin. Genet. 1997;52:12–16
  12. Mehta M, White LM, Knapp T, Kandel RA, Wunder , Bell RS. MR imaging of symptomatic osteochondroma with pathological correlation. Skeletal Radiol. 1998;27:427–433
  13. Shapiro F, Simon S, Glimcher MJ. Hereditary multiple exostoses. Anthropometric, roentgenographic, and clinical aspects. J. Bone Jt. Surg. Am. 1979;61:815–824
  14. Malghem J, Vande Berg B, Noel H, Maldague B. Benign osteochondromas and exostotic chondrosarcomas: evaluation of cartilage cap thickness by ultrasound. Skeletal Radiol. 1992;21:33–37
  15. Carroll KL, Yandow SM, Ward K, Carey JC. Clinical correlation to genetic variations of hereditary multiple exostosis. J. Pediatr. Orthop. 1999;19:785–791
  16. McCornick C, Duncan G, Tufaro F. New perspectives on the molecular basis of hereditary bone tumours. Mol. Med. Today. 1999;5:481–486
  17. Peh WC, Shek TW, Davies AM, Wong JW, Chien EP. Osteochondroma and secondary synovial osteochondromatosis. Skeletal Radiol. 1999;28:169–174
  18. Disler DG. Fat-suppressed three-dimensional spoiled gradient-recalled MR imaging: assessment of articular and physeal hyaline cartilage. Am. J. Roentgenol. 1997;169:1117–1123
  19. Eschelman DJ, Gardiner GA, Deely DM. Osteochondroma: an unusual cause of vascular disease in young adults. J. Vasc. Interv. Radiol. 1995;6:605–613
  20. Recht MP, Sachs PB, LiPuma J, Clampitt M. Popliteal artery pseudoaneurysm in a patient with hereditary multiple exostoses: MRI and MRA diagnosis. J. Comput. Assist. Tomogr. 1993;17:300–302
  21. Cardelia JM, Dormans JP, Drummond DS, Davidson RS, Duhaime C, Sutton L. Proximal fibular osteochondroma with associated peroneal nerve palsy: a review of six cases. J. Pediatr. Orthop. 1995;15:574–577
  22. Coenen L, Biltjes I. High radial nerve palsy caused by a humeral exostosis: a case report. J. Hand Surg. Am. 1992;17:668–669
  23. Bell RS. Musculoskeletal images. Malignant transformation in familial osteochondromatosis. Can. J. Surg. 1999;42:8
  24. Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M. Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am. J. Hum. Genet. 1995;56:1125–1131
  25. Tsuchiaya H, Moriskawa S, Tomita K. Osteosarcoma arising from a multiple cartilaginous exostosis: a case report. Jpn. J. Clin. Oncol. 1990;20:296–298

PII: S0720-048X(01)00401-6

European Journal of Radiology
Volume 40, Issue 3 , Pages 208-217 , December 2001

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