Oculocerebral Syndrome with Hypopigmentation (Amish
Oculocerebral Syndrome;
Cross Syndrome) 515c24f 515c24f 515c24f 515c24f 515c24f 515c24f
General: Autosomal recessive.
Ocular: Spastic ectropion; microphthalmos; enophthalmos; microcornea; corneal opacification; corneal vascularization; palpebral conjunctival injection; narrow lid fissures; aniridia; nystagmus; bilateral optic atrophy.
Clinical: Spastic diplegia; cutaneous hypopigmentation; mental retardation; hypogonadism; growth retardation; developmental defects of the CNS, such as cystic malformation of the posterior fossa of the Dandy-Walker type.
Cross HE, et al. A new oculocerebral syndrome with hypopigmentation. J Pediatr 1967; 70:398-406.
De Jong G, Fryns JP. Oculocerebral syndrome with hypopigmentation (Cross syndrome): the mixed pattern of hair pigmentation as an important diagnostic sign. Genet Couns 1991; 2:151-l55.
Lerone M, et al. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet 1992; 41:87-89.
Pinsky L, et al. Microphthalmos, corneal opacity, mental retardation and spastic cerebral palsy: an oculocerebral syndrome. J Pediatr 1965; 67:387.
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