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Achondroplasia: Really rhizomelic?

Susan Cheng Shelmerdine1, Helen Brittain2, Owen J Arthurs2,3

  • 1Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.

American Journal of Medical Genetics. Part A
|June 4, 2016
PubMed
Summary

Achondroplasia (a form of dwarfism) shows true rhizomelic shortening in upper limbs, not lower limbs, in infants. This study clarifies limb length proportions in achondroplasia at diagnosis.

Keywords:
achondroplasialimb proportionslimb ratiorhizomelicskeletal dysplasia

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Area of Science:

  • Pediatric Radiology
  • Orthopedics
  • Genetics

Background:

  • Achondroplasia is the most common cause of short-limb dwarfism.
  • Limb shortening in achondroplasia is often described as rhizomelic.
  • The radiological accuracy of this description requires investigation.

Purpose of the Study:

  • To determine if rhizomelic shortening is a genuine feature of achondroplasia in infants at diagnosis.
  • To radiologically assess limb bone length proportions in infants with achondroplasia.

Main Methods:

  • Diaphyseal lengths of humerus, radius, femur, and tibia were measured in 22 infants with achondroplasia.
  • Measurements were compared to 150 age-matched normal control infants.
  • Upper (radial/humeral) and lower (tibial/femoral) limb bone length ratios were analyzed using unpaired t-tests.

Main Results:

  • Infants with achondroplasia showed statistically significant higher upper limb length ratios (0.87 ± 0.04) compared to controls (0.79 ± 0.02; P < 0.0001).
  • Lower limb length ratios were not significantly different between achondroplasia (0.84 ± 0.04) and control groups (0.83 ± 0.02; P = 0.46).
  • Measurements demonstrated good inter-observer agreement.

Conclusions:

  • Infants with achondroplasia exhibit statistically significant rhizomelic shortening in their upper limbs at diagnosis.
  • Rhizomelic shortening is not a significant feature of the lower limbs in achondroplasia during infancy.
  • The term "rhizomelic shortening" should be specifically applied to upper limb proportions in achondroplasia.