Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation.
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.
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División de Genética, IMSS, Gaudalajara, Jalisco, Mexico.
García-Cruz
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D
Ramírez-Dueñas
M L
ML
Rivera-Robles
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V
Cantù
J M
JM
D000015:Abnormalities, Multiple; D016569:Blepharophimosis; D002648:Child; D005260:Female; D006130:Growth Disorders; D006801:Humans; D007223:Infant; D008831:Microcephaly; D011596:Psychomotor Disorders; D013577:Syndrome