In the one reported case, craniofacial
abnormalities included brachycephaly, inverted epicanthal folds, angulated
eyebrows, severe webbing of the neck (pterygium colli), up-slanting of the
palpebral fissures, ptosis, hypertelorism, and prominent, low-set ears
rotated posteriorly. The hands and feet were edematous at birth, but this resolved
soon after. Hypotonia was present at birth.
At the age of 18 years the patient had proximally displaced small
thumbs, widened interphalangeal joints, and broad terminal phalanges.
The patient suffered from mental