Walker-warburg syndrome (cerebroocular dysplasia-muscular dystrophy; warburg syndrome; cod-md syndrome; fukuyama congenital muscular dystrophy; hard + or - e syndrome) 1

General: Rare; encompassing a triad of brain, eye, and muscle abnormalities; probably autosomal recessive.

Ocular: Microphthalmia; cataract; immature anterior chamber angle; retinal dysplasia; retinal detachment; persistent hyperplastic primary vitreous; optic nerve hypoplasia; iris coloboma; opaque cornea; myopia; orbicularis weakness; irregular gray subretinal mottling; optic atrophy.

Clinical: Cerebral and cerebellar agyria-micropolygyria; cortical disorganization; glialmesodermal proliferation; neuronal heterotopias; hypoplasia of nerve tracts; hydrocephalus; encephalocele; muscular dystrophy; seizures; mental retardation; hypotonia; abnormal facies.

Heggie P, et al. Cerebro-ocular dysplasia-muscular dystrophy syndrome. Arch Ophthalmol

Levine RA, et al. Warburg syndrome. Ophthalmology 1983; 90:1600-l603.

Walker AE. Lissencephaly. Arch Neurol 1942; 48:13-29.

Warburg M. Hydrocephaly, congenital retinal nonattachment and congenital falciform fold. Am J Ophthalmol 1978; 85:88-94.