Please click to enlarge.
Note what signs you see.
I (W. Wertelecki, M.D.) see:
- Large head – macrocephaly (megalocrania).
- Short neck.
- Short proximal segments of arms (rhizomelia).
- Lack of a nasal root (osseous).
- Small nose (cartilaginous).
- Malrotated ear.
- Perhaps hypotonia (“frog like” abdomen contour).
- Cutis marmorata (mottled skin).
PERSPECTIVE: The concurrence of the above signs is strongly suggestive of a chondro-skeletal dysplasia. This image, second of three, is taken from a gallery of chronological images incorporated in a video focused on highlighting the process of establishing a diagnosis.