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Acromesomelic dwarfism: a new variation

F G Ferraz1, P Maroteaux, J P Sousa

  • 1Department of Genetics, HCL, Pediatrics Hospital of D Estefânia, Lisbon, Portugal.

Journal of Pediatric Orthopedics. Part B
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

Acromesomelic dwarfism, a rare skeletal disorder, causes short stature and limbs. This report details a unique variation in a Portuguese mother and son, distinct from previously documented cases.

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Area of Science:

  • Genetics
  • Orthopedics
  • Medical Case Reports

Background:

  • Acromesomelic dwarfism is a rare skeletal dysplasia characterized by disproportionate short stature and limb shortening.
  • Bone dysplasia is a hallmark of this condition, affecting skeletal development.