European Journal of Radiology
Volume 40, Issue 3 , Pages 161-167 , December 2001

The diagnosis of skeletal dysplasias: a multidisciplinary approach

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

References 

  1. Horton WA, Hecht JT. The chondrodysplasias. In:  Royce PM,  Steinmann B editor. Connective tissue and its heritable disorders. New York: Wiley-Liss; 1993;p. 641–675
  2. Rimoin DL, Lachman RS. Genetic disorders of the osseous skeleton. In:  Beighton P editors. McKusicks heritable disorders of connective tissue. St. Louis: Mosby-Year Book; 1993;p. 557–689
  3. In:  Maroteaux P editors. Les Maladies Osseuses de l'enfant. Paris: Flammarion Médicine-Sciences; 1995;
  4. Lachman RS. Skeletal dysplasias. In:  Taybi H,  Lachman RS editor. Radiology of syndromes, metabolic disorders, and skeletal dysplasias. St. Louis: Mosby-Year Book; 1996;p. 745–951
  5. International Working Group on Constitutional Diseases of Bone . International nomenclature and classification of the osteochondrodysplasias. Am. J. Med. Genet. 1998;79:376–382
  6. Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB. Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. Am. J. Med. Genet. 1996;61:49–58
  7. Parrot J. Sur la malformation achondroplasique et le dieu Phtah, In: Parrot J, editors. La syphilis héréditaire et le rachitis. 1886. pp. 280–284.
  8. Spranger JW, Langer LO, Wiedemann HR. Bone dysplasias: an atlas of constitutional disorders of skeletal development. Philadelphia: W.B. Saunders Company; 1974;
  9. Rimoin DL. The chondrodystrophies. In:  Harris H,  Hirschhorn K editor. Advances in human genetics. 5:New York: Plenum Publishing Corporation; 1975;p. 1–118
  10. Stanescu V, Stanescu R, Maroteaux P. Etude morphologique et biochimique du cartilage de croissance dans les ostéochondrodysplasies. Arch. Fr. Pediatr. 1977;34(Suppl. 3):1–80
  11. In:  Maroteaux P editors. Bone diseases of children. Philadelphia: JB Lippincott; 1979;
  12. Sillence DO, Horton WA, Rimoin DL. Morphologic studies in the skeletal dysplasias. Am. J. Pathol. 1979;96:813–870
  13. Spranger J. Bone dysplasia ‘families’. Pathol. Immunopathol. Res. 1988;7:76–80
  14. Mundlos S, Olsen BR. Heritable diseases of the skeleton. Part I: molecular insights into skeletal development-transcription factors and signaling pathways. FASEB J. 1997;11:125–132
  15. Mundlos S, Olsen BR. Heritable diseases of the skeleton. Part II: molecular insights into skeletal development-matrix components and their homeostasis. FASEB J. 1997;11:227–233
  16. Dreyer SD, Zhou G, Lee B. The long and short of it: developmental genetics of the skeletal dysplasias. Clin. Genet. 1998;54:464–473
  17. Muenke M, Schell U. Fibroblast growth factor receptor mutations in human skeletal disorders. Trends Genet. 1995;11:308–313
  18. Giedion A. The weight of the fourth dimension for the diagnosis of genetic bone disease. Pediatr. Radiol. 1994;24:387–391
  19. Mortier GR, Rimoin DL, Lachman RS. The scapula as a window to the diagnosis of skeletal dysplasias. Ped. Radiol. 1997;27:447–451
  20. Erlebacher A, Filvaroff EH, Gitelman SE, Derynck R. Toward a molecular understanding of skeletal development. Cell. 1995;80:371–378
  21. Tickle C. Vertebrate limb development. Curr. Opin. Genet. Dev. 1995;5:478–484
  22. Johnson RL, Tabin CJ. Molecular models for vertebrate limb development. Cell. 1997;90:979–990
  23. Warman ML. Human genetic insights into skeletal development, growth, and homeostasis. Clin. Orthop. Relat. Res. 2000;379:S40–S54
  24. Byers P. Osteogenesis imperfecta. In:  Royce PM,  Steinmann B editor. Connective tissue and its heritable disorders. New York: Wiley-Liss; 1993;p. 317–350
  25. Lachman RS, Rappaport V. Fetal imaging in the skeletal dysplasias. Clin. Perinatol. 1990;17:703–722
  26. Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. Acta Paediatr. 1996;417:33–38
  27. Briggs MD, Mortier GR, Cole WG, Bonaventure J, Nuytinck L, De Paepe A, et al. Diverse mutations in the gene for cartilage oligomeric matrix protein (COMP) in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am. J. Hum. Genet. 1998;62:311–319
  28. Mortier GR, Chapman K, Leroy JL, Briggs MD. Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes. Eur J Hum Genet. 2001;9:606–612
  29. In:  Hall JG,  Froster-Iskenius UG,  Allanson JE editor. Handbook of normal physical measurements. Oxford: Oxford University Press; 1989;

PII: S0720-048X(01)00397-7

European Journal of Radiology
Volume 40, Issue 3 , Pages 161-167 , December 2001

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