Achondroplasia Girl

Achondroplasia Girl

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see:

  • Short stature – short limb syndrome associated with a relatively large cranium.
  • A facies suggestive of Achondroplasia.
  • Relatively large thorax.
  • Short proximal limbs (rhizomelia).
  • Bent tibias (weight bearing effect – note that the brain weight impacts the base of the skull).
  • Low nasal bridge.
  • Small cartilaginous nose.

PERSPECTIVE: The concurrence of the above signs is strongly suggestive of a chondro-skeletal dysplasia. This image, third of three, is taken from a gallery of chronological images incorporated in a video focused on highlighting the process of establishing a diagnosis.

Two other images of this girl during early and late infancy taken from the companion video illustrate the natural history (progression) of the chondro-skeletal disorder.


Tags: dxAchondropl