Radiologic Features of Achondroplasia

  • Frederic N. Silverman
Part of the Basic Life Sciences book series (BLSC, volume 48)


It would be appropriate to begin with a photograph of a miniature bronze statue of an ancient Roman who is believed to represent one of the dwarfed gladiators assembled by the emperor Domitian almost two thousand years ago. The skill of the unknown artist clearly defined the clinical features of an achondroplastic dwarf as they have been presented by Professor Maroteaux. Had we an opportunity to examine this individual radiographically, we should have found him to have short and relatively thick tubular bones in all limbs. The femur would not be much longer than the tibia. This feature and similar proportions in the bones of the upper limb (Fig. 1) are responsible for the diagnostically important rhizomelic limb shortening that characterizes achondroplasia. The tuberosities to which muscles are attached are unusually prominent, and together with relatively large articulating ends of the bones exaggerate the discrepancy between length and width of the shafts.


Vertebral Body Spinal Stenosis Lumbar Spinal Stenosis Tubular Bone Internal Auditory Meatus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. J. Parrot, Sur la malformation achondroplasique et le dieu Phtah, Chap. XVI in: “La syphilis héréditaire et le rachitis”, 280–284 (incomplete)(1886).Google Scholar
  2. 2.
    E. Kaufmann, Die Chondrodystrophia hyperplastica, Beitr. Path. Anat. u.z. allg. Path. 13:22 (1893).Google Scholar
  3. 3.
    A. Johannessen, Chondrodystrophia foetalis hyperplastica, Beitr. Path. Anat. Allg. Path. 23:351 (1898).Google Scholar
  4. 4.
    P. Marie, “L’achondroplasie… dans l’adolescence et l’âge adulte”. Presse med., 17–23 (1900).Google Scholar
  5. 5.
    F. Ravenna, Achondroplasie et chondrohypoplasie, Nouv. Iconogr. Salpet. 26:157 (1913).Google Scholar
  6. 6.
    C. Parhon et al., L’achondroplasie, Nouv. Iconogr. Salpetr. 26:185 (1913).Google Scholar
  7. 7.
    F. Knoetzke., Bermerkungen zur Wirbelsaeule des Chondrodystrophen, Beitr. Path Anat. 81:547 (1928).Google Scholar
  8. 8.
    F. E. Stephens, An achondroplastic mutation and the nature of its inheritance, J. Heredity 34:229 (1943).Google Scholar
  9. 9.
    J. Caffey, Achondroplasia of pelvis and lumbosacral spine, Am. J. Roentgenol. 80:449 (1948).Google Scholar
  10. 10.
    J. P. Dennis, H. S. Rosenberg and E. C. Alvord, Jr., Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia, Brain 84:427 (1961).PubMedCrossRefGoogle Scholar
  11. 11.
    R. Escamilla, J. Hutchings, C. Hao et al., Achondroplastic dwarfism: effects of treatment with growth hormone, Calif. Med. 105:104 (1966).PubMedGoogle Scholar
  12. 12.
    F. N. Silverman and S. Brunner, Errors in the diagnosis of achondro plasia, Acta Radiol. 6:305 (1967).Google Scholar
  13. 13.
    F. N. Silverman, A differential diagnosis of achondroplasia, Radiol. Clin. North Am. 6:223 (1968).PubMedGoogle Scholar
  14. 14.
    D. L. Rimoin and V. A. McKusick, Somatic mosaicism in an achondro plastic dwarf, Birth Defects: Orig. Art. Series 5(4):17 (1969).Google Scholar
  15. 15.
    D. Rimoin, G. Hughes, R. Kaufman et al., Endochondral ossification in achondroplastic dwarfism, N. Engl. J. Med. 283:728 (1970).PubMedCrossRefGoogle Scholar
  16. 16.
    I. Ponseti, Skeletal growth in achondroplasia, J. Bone Joint Surg. 52A:701 (1970).Google Scholar
  17. 17.
    D. D. Wallace, L. A. Exton, D. A. Pritchard et al. Severe achondro plasia: demonstration of probable heterogeneity within the clinical syndrome, J. Med. Genet. 7:22 (1970).PubMedCrossRefGoogle Scholar
  18. 18.
    V. A. McKusick et al., Observations suggesting allelism of the achon droplasia and hypochondroplasia genes, J. Med. Genet. 10:11 (1973).PubMedCrossRefGoogle Scholar
  19. 19.
    M. Marin-Padilla et al., Developmental abnormalities of the occipital bone in human chondrodystrophies. Birth Defects: Orig. Art. Ser. 13(3D):7 (1977).Google Scholar
  20. 20.
    S. M. Mueller et al., Achondroplasia and hydrocephalus. Neurology 27: 430 (1977).PubMedGoogle Scholar
  21. 21.
    A. A. Siebens et al., Curves of the achondroplastic spine: a new hypothesis, Johns Hopkins Med. J. 142:205 (1978).PubMedGoogle Scholar
  22. 22.
    A. Ganel et al., Leg-lengthening in achondroplastic children, Clin. Orthop. 144:194 (1979).PubMedGoogle Scholar
  23. 23.
    F. Oberklaid et al., Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate and radiological features in skull and spine, J. Med. Genet. 16:140 (1979).PubMedCrossRefGoogle Scholar
  24. 24.
    R. E. Pyeritz et al., Surgical intervention in achondroplasia — Cervical and lumbar laminectomy for spinal stenosis in achondroplasia, Johns Hopkins Med. J. 146:203 (1980).PubMedGoogle Scholar
  25. 25.
    S. E. Kopits, Surgical intervention in achondroplasia — Correction of bowleg deformity in achondroplasia, Johns Hopkins Med. J. 146:206 (1980).PubMedGoogle Scholar
  26. 26.
    P. Veighton et al., Gibbal achondroplasia, J. Bone Joint Surg. 63B: 328 (1981).Google Scholar
  27. 27.
    R. Wynne-Davies et al., Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis, J. Bone Joint Surg. 63B: 508 (1981).Google Scholar
  28. 28.
    J. P. Fryns and A. Kleczkowska, H. Verresen et al., Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents, Clin. Genet. 24:156 (1983).PubMedCrossRefGoogle Scholar
  29. 29.
    J. T. Hecht, I. J. Butler and C. I. Scott, Long-term neurological sequelae in achondroplasia, Eur. J. Pediatr. 143:58 (1984).PubMedCrossRefGoogle Scholar

Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • Frederic N. Silverman
    • 1
  1. 1.Stanford Univ. Medical CenterStanfordUSA

Personalised recommendations