Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies

Clinical Features

In 3 individuals from 2 inbred sibships of a Brazilian kindred, Paes-Alves et al. (1991) described a syndrome characterized by malformation of the face, ears, hands and feet, associated with mixed deafness and pseudopapilledema. Facial features included ocular hypotelorism, epicanthal folds, and blepharophimosis. The ears were low set and malformed. The thenar, hypothenar, and interdigital areas of the hands were flat and the fingers mildly webbed. A broad space separated the first and second toes. A fourth affected individual in 1 of the sibships was not described in detail. It was suggested that heterozygotes could be identified on the basis of the number of related anomalies they demonstrated.

Bertola et al. (1997) described the case of a 23-year-old man born to consanguineous parents and presenting with pseudopapilledema, mixed hearing loss, and minor facial and limb anomalies. They suggested the designation acrootoocular syndrome.