Kabuki Syndrome. Neurological disorders, case report
- Authors: Sсhugareva L.M.1,2, Poteshkina O.V.3,4, Galaktionova S.M.4
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Affiliations:
- Children's Hospital №1, St. Petersburg, Russia
- North-Western State Medical University named after I.I. Mechnikov, St. Petersburg, Russia
- Children's Hospital №1
- North-Western State Medical University named after I.I. Mechnikov
- Issue: Vol 11, No 2 (2019)
- Pages: 59-70
- Section: Case report
- URL: https://journals.rcsi.science/vszgmu/article/view/11340
- DOI: https://doi.org/10.17816/mechnikov201911259-70
- ID: 11340
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Abstract
Kabuki syndrome [Kabuki syndrome, Kabuki make-up syndrome, Niikawa-s: Kuroki syndrome] (КS) – refers to rare genetic disorders, in which are involved multiple systems of the body. Of the neurological manifestations in КS are characteristic microcephaly, floppy baby syndrome, sizures, abducens nerve palsy, delayed maturation of the sucking-swallowing refleх, hearing loss, mental retardation.
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##article.viewOnOriginalSite##About the authors
Liudmila M. Sсhugareva
Children's Hospital №1, St. Petersburg, Russia; North-Western State Medical University named after I.I. Mechnikov, St. Petersburg, Russia
Email: neurodoctor@mail.ru
Ph. D, Professor, Department of Pediatric Neuropathology and Neurosurgery; Head of the Department of Neurology
Russian Federation, 198205, Saint-Petersburg, Avangardnaya st, 14; 191015, Saint-Petersburg, Kirochnaya st, 41Oksana V. Poteshkina
Children's Hospital №1; North-Western State Medical University named after I.I. Mechnikov
Author for correspondence.
Email: ovpoteshkina@gmail.com
SPIN-code: 9407-5169
Candidate of Medical Sciences, Associate Professor of the Department of Pediatric Neuropathology and Neurosurgery; neurologist
Russian Federation, 198205, Saint-Petersburg, Avangardnaya st, 14; 191015, Saint-Petersburg, Kirochnaya st, 41Svetlana M. Galaktionova
North-Western State Medical University named after I.I. Mechnikov
Email: gsm456633@yandex.ru
Clinical ordinator
Russian Federation, 191015, Saint-Petersburg, Kirochnaya st, 41References
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