Present at birth with polyhydramnios,
decreased fetal movement and growth retardation. It is usually lethal within the
first few months of life. This complex polymalformative disease involves the
head with neurologic malformations (microcephaly, microtia, agyria,
hydrocephalus type II, lissencephaly, corpus callosum and pellucidum
agenesis, disorganized brain cytoarchitecture, cerebellar malformation,
ventriculomegaly and polymicrogyria), ear (absent auditory canals, low-set and
bat ears), eyes (retinal detachment, cataract, microphthalmia, retinal
pigmentary changes, anterior chamber malformation, hyperplastic primary
vitreous, optic nerve hypoplasia, coloboma, glaucoma, and corneal clouding),
and mouth (cleft lip/palate). Profound mental retardation and seizures are
constant. Other features can include imperforate anus, genital abnormalities
(cryptorchidism, small penis and testes), renal dysplasia, congenital
contractures, and muscular dystrophy.