Beatriz Reis de Melo Veras1*, Mariana Cardoso Schroeder1, Marina de Araújo Câmara Gusmão1, Mirela Carolaine Cunha da Cruz1, Héberte de Santana Arruda2

American journal of genetics

Introduction. Kabuki syndrome is a rare congenital anomaly characterized by defects craniofacial, intellectual and cardiac. It has a clinical diagnosis and its main phenotypic characteristic observed is the facial dysmorphia, very similar to the makeup used by the Japanese theater actors Kabuki. This review aims to describe the characteristics of Kabuki Syndrome and its main implications. Methodology. A literature review was conducted with research on the following databases: PubMED, BVS and SCIELO. Five scientific papers and two dissertations were selected. Results. It is believed that the disease is related to a mutation of the MLL2 gene, which is responsible for coding the group of Tritorax proteins, which have as their main regular function and genetic expression. Conclusion. This disease is still poorly understood in the health not having a clarity about their phenotypic / genotypic relationship needing further studies on the subject.

Keywords: Kabuki, Kabuki syndrome, Kabuki make-up syndrome, congenital abnormalities.

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Beatriz Reis de Melo Veras, Mariana Cardoso Schroeder, Marina de Araújo Câmara Gusmão, Mirela Carolaine Cunha da Cruz, Héberte de Santana Arruda. KABUKI SYNDROME: A LITERATURE REVIEW. American Journal of Genetics, 2019, 2:9

1. Dias, RMPA. Alterações Orofaciais na Síndrome de Kabuki. Porto. Faculdade de Medicina Dentária da Universidade do Porto. 2013.
2. Kuroki, Y., Suzuki, Y., Chyo H., Hata A, Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pedritr 1981; 99(4): 570-3.
3. Niikawa, N., Matsuura, N., Fukushima, Y., Oshawa, T., Kajii, T. Kabuki make- up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pedriatr 1981; 99(4): 565-9.
4. Alarcón C.O., et al, Síndrome de Kabuki: Presentación de um Caso y Revisión de la Literatura. Barranquilla; Vol. 32, no.3, Barranquilla, Sept/ Dec. 2016.
5. Santos AS. Et al, Características orais e craniofaciais da Síndrome de Kabuki: relato de um caso. Rev. Ciênc. Méd. Biol., Salvador, v. 12, n.3, p. 385- 388, set/ dez. 2013.
6. Schoen-Ferreira, et. Al. Síndrome de Kabuki: estudo de caso a respeito das características comportamentais, cognitivas, sociais e fonoaudiológicas. Aletheia; no. 32, Canoas, ago. 2010.

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