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.
