Achondroplasia Infant

macrocephaly1

Please click to enlarge.

Note what signs you see.

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

  • Large head – macrocephaly (megalocrania).
  • Short neck.
  • Perhaps short proximal segments of arms (rhizomelia?).
  • Perhaps hypotonia (“frog like” abdomen contour).

PERSPECTIVE: The concurrence of the above signs is strongly suggestive of a chondro-skeletal dysplasia. This image, one 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 infant taken from the companion video illustrate the natural history (progression) of the chondro-skeletal disorder (keywords: achondroplasia infant; achondroplasia girl).

 

Tags: dxAchondropl