2 BROTHERS WITH CHARACTERISTIC FACIAL APPEARANCE, SEVERE PSYCHOMOTOR RETARDATION, HYPOSPADIAS, CONTRACTURES, AND OTHER SYMPTOMS - A NEW RECESSIVE SYNDROME

We report on two severely mentally retarded male children of consangui neous parents who seem to be affected by an identical syndrome. The ma in physical anomalies are typical facial stigmata with a broad nasal b ridge, a bulbous nose, upward slanting palpebral fissures, microretrog nathia, low hair line, and large ears with an incompletely developed u pper helix. In addition, both brothers had hypospadias type II, limb c ontractures, and delayed bone age. One child had a bilateral cleft lip with cleft palate and cryptorchidism, and developed scoliosis during adolescence. The other had bilateral inguinal hernias and strabismus. Chromosome analysis showed a normal karyotype in both. The striking si milarity between the brothers, the dissimilarity to other known syndro mes, and the parental consanguinity argue in favour of a new, hitherto undescribed, possibly autosomal recessive syndrome.