Human Genetics

, Volume 34, Issue 1, pp 107–113 | Cite as

Acromesomelic dwarfism: Description of a patient and comparison with previously reported cases

  • Alasdair G. W. Hunter
  • Margaret W. Thompson
Clinical Case Reports


A woman is described who has a severe bone dysplasia confined to the limbs. The degree of involvement is more marked in the distal bones. Her forearms and legs are short; the fibulae are represented by distal triangular remnants; the metacarpals are short, several phalanges in the fingers are absent; and the toes are represented by “ball-like” remnants containing a single bone. The findings in our patient are compared to previously reported cases of acromesomelic dwarfism.


Internal Medicine Metabolic Disease Severe Bone Bone Dysplasia Single Bone 
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. Bailey, J. A.: Acromesomelic syndromes. In: Disproportionate short stature, pp. 215–216. Philadelphia: Saunders 1973aGoogle Scholar
  2. Bailey, J. A.: Acromesomelic syndromes. In: Disporportionate short stature, Philadelphia: Saunders p. 269. 1973bGoogle Scholar
  3. Beighton, P.: Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. Clin. Genet. 5, 363–367 (1974)Google Scholar
  4. Campailla, E., Martinelli, B.: Deficit staturale con micromesomelia. Minerva orthop. 22, 180–184 (1971)Google Scholar
  5. DuPan, C. M.: Absence congénitale du péroné sans déformation du tibia. Curieuses déformations congénitales des mains. Rev. Orthop. 11, 227–234 (1924)Google Scholar
  6. Freire-Maia, N., Lenz, W. D.: Discussion. Birth Defects: Original Article Series V, No. 4, 14–16 (1969)Google Scholar
  7. Garcia-Castro, J. M., Perez-Comas, A.: Nonlethal achondrogenesis (Grebe-Quelce-Salgado type) in two Puerto Rican sibships. J. Pediat. 87, 948–952 (1975)Google Scholar
  8. Grebe, H.: Die Achondrogenesis. Ein einfach recessives Erbmerkmal. Foila hered. path. (Milano) 2, 23–28 (1952)Google Scholar
  9. Grebe, H.: Chondrodysplasie. Analecta Genetica (Inst. Gregorio Mendel, Rome) 2, 297–300 (1955)Google Scholar
  10. Maroteaux, P.: Acromesomelic dwarfism. Progr. Pediat. Radiol., Vol. 4, Intrinsic diseases of bones, pp. 563–565. Basel: Karger 1973Google Scholar
  11. Maroteaux, P., Martinelli, B., Campailla, E.: Nanisme acromesomelique. Presse méd. 79, 1839–1842 (1971)Google Scholar
  12. Quelce-Salgado, A.: A new type of dwarfism with various bone aplasias and hypoplasias of the extremities. Acta genet. (Basel) 14, 63–66 (1964)Google Scholar
  13. Rimoin, D. L.: The chondrodystrophies. In: Advances in human genetics (eds. H. Harris, K. Hirschhorm), Vol. 5, p. 84. New York: Plenum Press 1975Google Scholar
  14. Temtamy, S., McKusick, V. A.: Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article Series V, No. 3, 125–184 (1969)Google Scholar
  15. Young, L. W., Wood, B. P.: Nievergelt syndrome (Mesomelic dwarfism — type Nievergelt). Birth Defects: Original Article Series X, No. 5, 81–86 (1974)Google Scholar

Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • Alasdair G. W. Hunter
    • 1
    • 2
  • Margaret W. Thompson
    • 1
  1. 1.Department of GeneticsThe Hospital for Sick ChildrenTorontoCanada
  2. 2.Department of GeneticsHealth Sciences Centre Children's CentreWinnipegCanada

Personalised recommendations