Pathology

Pediatrics

Disease

Dermatology

Hypopigmentation

Chorea

Athetosis

Medicine

Clinical Genetics

Lerone M, Pessagno A, Taccone A, Poggi G, Romeo G, Silengo MC. Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case. Clin Genet 1992: 41: 87–89. 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.

Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case