Wolff Mental Retardation Syndrome

Wolff et al. (1994) described 2 severely retarded brothers, the only children of consanguineous Italian parents, with severe mental retardation, striking and very similar facial features, and other anomalies. The faces were characterized by a broad nasal bridge, bulbous nose, upward slanting palpebral fissures, microretrognathia, low anterior hairline, and large ears with an incompletely developed upper helix. In addition, both brothers had type II hypospadias, limb contractures, and delayed bone age. Pictures of the patients as infants and as young adults were presented. One brother had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus.