title: [Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].
abstract: 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.
authors.affiliation: Centro Nacional de Genética Médica Dr. Eduardo Castilla.
authors.forename: María Soledad
authors.initials: MS
authors.lastname: Andersen
authors.affiliation: Centro Nacional de Genética Médica Dr. Eduardo Castilla.
authors.forename: Sebastián
authors.initials: S
authors.lastname: Menazzi
authors.affiliation: Centro Nacional de Genética Médica Dr. Eduardo Castilla.
authors.forename: Paloma
authors.initials: P
authors.lastname: Brun
authors.affiliation: Centro Nacional de Genética Médica Dr. Eduardo Castilla.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Cocah
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italia.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Merla
authors.affiliation: Centro Nacional de Genética Médica Dr. Eduardo Castilla.
authors.forename: Andrea
authors.initials: A
authors.lastname: Solari
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006402:Hematologic Diseases / Q000175:diagnosis*; D006801:Humans; D010641:Phenotype; D015837:Vestibular Diseases / Q000175:diagnosis*