Severe growth (already antenatal in origin) and
mental retardation are present. Clinical features involve the head and
central nervous system (thickened skull, microcephaly, hypoplasia/ agenesis
of the cerebellar vermis, large ears, and everted upper lip), the skeleton
(generalized chondrodysplasia, micromelia, short metacarpals and phalanges,
which are widened in the midportion and distally, short iliac bones,
broadened epiphyses, trapezoid vertebral bodies), and the eyes (deep set
eyes, strabismus, miosis, short palpebral fissures, hypoplasia of the iris,
coloboma of the optic disc, abnormal retinal vessels). Other features
include pseudohermaphroditism and narrow chest with 11 pairs of ribs.