[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].

[kabuki syndrome]

Kabuki syndrome is a genetic entity with multiple anomalies associated with intellectual disability . The clinical diagnosis is based on typical facial features , minor skeletal abnormalities , finger pads , and postnatal growth deficit . Other findings may include congenital heart disease , genitourinary anomalies , oral clefts , anal atresia , increased susceptibility to infections , autoimmune and endocrine disease and hearing loss . The objective of this paper is to describe two patients with clinical diagnosis of Kabuki syndrome , highlighting the phenotypic findings and associated malformations .