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Medicas UIS

Print version ISSN 0121-0319

Abstract

SUAREZ-GUERRERO, Jorge Luis  and  CONTRERAS-GARCIA, Gustavo Adolfo. Kabuki syndrome: clinical, genetic, preventive management of complications and genetic counseling. Medicas UIS [online]. 2012, vol.25, n.1, pp.19-27. ISSN 0121-0319.

Introduction: Kabuki refers to traditional Japanese theater, and the syndrome's name comes from the similarity of the patients' facial makeup used by these actors. Kabuki syndrome is a dismorfological pathology characterized by particular facial features including wide palpebral fissures, depressed nasal tip, arched eyebrows with the lateral one-third dispersed or sparse, and prominent ears. All these features are concomitant, with mental retardation, cardiopathies, nephropathies , among others. Due to the presence in greater or lesser number of times certain pathologies, have been divided into minor and major abnormalities. Objective: present a review of the generalities of Kabuki syndrome, dismorfologicas features, clinical characteristics, complications, and genetic studies to date. Methods: we used the databases PubMed and SciELO, to search for information. Results: the published studies alluding to the first cases of the syndrome, even those published recently where MLL2 gene is identified as a possible candidate for this syndrome. Conclusions: until now the diagnosis is made by clinical findings, although it can detect the mutation of gene MLL2. For the diagnosis is given through the family history and physical examination findings, especially the facial features, characteristic of this syndrome. Complementing the diagnosis must be carry out a preventive management of complications and to avoid potential risks, and offer the family information during genetic counseling. (MÉD.UIS. 2011;25(1):19-27)

Keywords : Kabuki Syndrome; Craniofacial anomalies; Arched eyebrows; Sparse eyebrows; Long palpebral fissures; Cleft lip/palate.

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