Diagnóstico clínico en el śindrome de Kabuki: Fenotipo y anomálias asociadas en dos casos nuevos

Translated title of the contribution: Clinical diagnosis of Kabuki syndrome: Phenotype and associated abnormalities in two new cases

María Soledad Andersen, Sebastián Menazzi, Paloma Brun, Cecilia Cocah, Giuseppe Merla, Andrea Solari

Research output: Contribution to journalArticlepeer-review

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.

Translated title of the contributionClinical diagnosis of Kabuki syndrome: Phenotype and associated abnormalities in two new cases
Original languageSpanish
JournalArchivos Argentinos de Pediatria
Volume12
Issue number1
DOIs
Publication statusPublished - 2014

Keywords

  • Body dysmorphic disorders
  • Kabuki syndrome
  • KMT2D intellectual disability

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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