Síndrome de Kabuki

Translated title of the contribution: Kabuki syndrome

J. L. Suarez Guerrero, A. A. Ordónez Suarez, G. A. Contreras García

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Kabuki syndrome (OMIM: #147 920) presents as large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, dysplastic ears and in most cases, with mental retardation. Patients have minor and major abnormalities in different systems. Its genetic basis is heterogeneous, but recently has been associated with mutations in gen MLL2. Case reports: We present two patients with clinical features compatibles with the syndrome, mainly: large palpebral fissures with eversion of the lateral third of the lower eyelids, depressed nasal bridge, arched eyebrows, flat nose, persistent fingertip pads, cardiopathies and renal anomalies. Commentary: The diagnosis of this condition is clinical. The characteristics in the cases are compared with the patients reported in the literature. The importance of early diagnosis is to provide preventive management and an appropriate genetic counseling for the family.

Translated title of the contributionKabuki syndrome
Original languageSpanish
Pages (from-to)51-56
Number of pages6
JournalAnales de Pediatria
Volume77
Issue number1
DOIs
StatePublished - Jul 1 2012
Externally publishedYes

Keywords

  • Cleft lip/palate
  • Craniofacial anomalies
  • Long palpebral fissures
  • Sparse eyebrows

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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