CNS anomalies may include agenesis/hypoplasia of
the corpus callosum, hydrocephalus, porencephaly, Dandy-Walker malformation,
cerebral atrophy, arachnoid cysts, encephalocele, and meningocele.
Pathologic changes affecting the eye are anophthalmia/microphthalmia and
colobomata of eyelids and iris. Skin anomalies include auricular tags,
periorbital cysts, pedunculated, hamartomatous (most often periorbital) skin
appendages, café au lait spots, and focal dermal hypoplasia. Psychomotor
retardation and seizures have been reported in most patients. Midline cleft
lip/palate and bifid/fused ribs can be seen occasionally.