UKRAINIAN CHILDREN WITH DISABILITIES NEED HELP!

ONGOING WAR IN UKRAINE
Our priorities must respond to the threat posed by Russia to Ukrainian children in particular those
with developmental disabilities. Please follow our postings and appeals for assistance.

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