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

Title[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].
Publication TypeJournal Article
Year of Publication2014
AuthorsAndersen MS, Menazzi S, Brun P, Cocah C, Merla G, Solari A
JournalArch Argent Pediatr
Volume112
Issue1
Pagination26-32
Date Published2014 Feb
ISSN1668-3501
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.

DOI10.1590/S0325-00752014000100017
Alternate JournalArch Argent Pediatr
Citation Key1427
PubMed ID24566779