title: Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case.
abstract: A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred Amish family. Since then, seven other patients, three sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy-Walker type. We report a new case of Cross syndrome.
authors.affiliation: Ambulatorio di Genetica Medica, Istituto G. Gaslini, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: A
authors.initials: A
authors.lastname: Pessagno
authors.forename: A
authors.initials: A
authors.lastname: Taccone
authors.forename: G
authors.initials: G
authors.lastname: Poggi
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: M C
authors.initials: MC
authors.lastname: Silengo
mesh_terms: D001921:Brain / Q000473:pathology*; D002648:Child; D005123:Eye / Q000473:pathology*; D006200:Hair Color; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010859:Pigmentation Disorders / Q000473:pathology*; D013577:Syndrome