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Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation
Author(s) -
Figuera L. E.,
GarciaCruz D.,
RamirezDueñas M. L.,
RiveraRables V.,
Cantù J. M.
Publication year - 1993
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1993.tb03855.x
Subject(s) - blepharophimosis , microcephaly , brachycephaly , psychomotor retardation , respiratory distress , pediatrics , psychomotor learning , mongoloid , medicine , anatomy , skull , surgery , pathology , psychiatry , ptosis , population , alternative medicine , cognition , environmental health
Figuera LE, García‐Cruz D, Ramírez‐Dueñas ML, Rivera‐Robles V, Cantù JM. Kaufman oculocerebrofacial syndrome: report of two new cases and further delineation. Clin Genet 1993: 44: 98–101. © Munksgaard, 1993 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.