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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

Summary

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.

Keywords

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.

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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

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