Biochemistry

   

Kabuki Syndrome: Case Study Report

Authors: Giovanna Franco Tini1, Amanda Caramel Juvino, Markus Algayer Atmanspacher, Carolina Algayer Atmanspacher, Caroline Berne Pereira, Rodolfo Georgevich Neto, Marina Struncova Fernandes, Ruth Andia-Merlin, Gilberto Araújo Noro Filho, Elcio Magdalena Giovan

Kabuki syndrome is a rare congenital anomaly, in which such (optional) patients present mild to moderate mental deficits and are characterized by unusual facial expressions. In addition, they may also manifest cardiac anomalies, urinary tract anomaly, hearing loss, hypotonia and also postnatal growth deficit. These fundamental characteristics are called “Pentad of Niikawa”, which correspond to dysmorphic face, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental deficit, and postnatal growth deficiency. It also includes scoliosis, malformation of spinal column and ribs, delay in skeletal maturation, dislocation of the hip and patellar. The aim of this case study report is to present the diagnosis of a patient with this syndrome, evidencing, in the light of knowledge, to the Dental Surgeons of how to conduct dental treatment with effectiveness and safety. It also shows the need for an interdisciplinary and multidisciplinary approach for the treatment of these patients, highlighting all of the complexity of the syndrome, making it easier future diagnoses, with a purpose of promoting integral health and improvements in the quality of life.

Comments: 3 Pages.

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Submission history

[v1] 2017-08-23 05:59:40

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