title: Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation.
abstract: Two unrelated Mexican girls, aged 14 months and 6 years respectively, with Kaufman oculocerebrofacial syndrome, are reported. Both showed psychomotor retardation, microcephaly, blepharophimosis and delayed growth as the main features; the infant also presented preauricular tags and 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 neonatal respiratory distress are the most typical characteristics of this mental retardation syndrome.
authors.affiliation: División de Genética, IMSS, Gaudalajara, Jalisco, Mexico.
authors.forename: L E
authors.initials: LE
authors.lastname: Figuera
authors.forename: D
authors.initials: D
authors.lastname: García-Cruz
authors.forename: M L
authors.initials: ML
authors.lastname: Ramírez-Dueñas
authors.forename: V
authors.initials: V
authors.lastname: Rivera-Robles
authors.forename: J M
authors.initials: JM
authors.lastname: Cantù
mesh_terms: D000015:Abnormalities, Multiple; D016569:Blepharophimosis; D002648:Child; D005260:Female; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D008831:Microcephaly; D011596:Psychomotor Disorders; D013577:Syndrome