KAUFMAN OCULOCEREBROFACIAL SYNDROME - REPORT OF 2 NEW CASES AND FURTHER DELINEATION

Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed ps ychomotor retardation, microcephaly, blepharophimosis and delayed grow th as the main features; the infant also presented preauricular tags a nd large clitoris. Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia and the neona tal respiratory distress are the most typical characteristics of this mental retardation syndrome.