Clinical observation of genetically confirmed Kabuki syndrome type 1, with an undetermined type of inheritance, in a 7-year-old child
- Authors: Gorkina O.K.1, Pavlov P.V.1, Zakharova M.L.1, Nikitina N.V.1
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Affiliations:
- Saint Petersburg State Pediatric Medical University
- Issue: Vol 14, No 3 (2023)
- Pages: 121-128
- Section: Clinical observation
- URL: https://journals.rcsi.science/pediatr/article/view/254590
- DOI: https://doi.org/10.17816/PED143121-128
- ID: 254590
Cite item
Abstract
Kabuki syndrome is a rare hereditary disease that has a specific clinical picture: facial features, growth retardation, muscular hypotonia, skeletal abnormalities, dermatoglyphic abnormalities, mild to moderate mental retardation, and postnatal growth deficiency. Kabuki syndrome (Kabuki mask syndrome / Kabuki makeup syndrome) got its name for the specific features of the appearance of patients who have a facial expression similar to a special makeup that highlights the eyes and eyebrows of the characters of the Japanese Kabuki theater. The main reasons for the development of Kabuki syndrome in 75% are mutations in the KMT2D gene (KS type 1) and in 5% are mutations in the KDM6A gene (Kabuki syndrome type 2), the etiology of about 20% of cases remains unknown. Most mutations in type 1 Kabuki syndrome are formed de novo, and cases of autosomal dominant inheritance have also been described. Type 2 Kabuki syndrome has sex-linked (X-linked) inheritance. Because Kabuki syndrome is a low-prevalence, multisystem disease, patients require a variety of diagnostic and screening tests with multidisciplinary evaluation of outcomes at different stages of their lives. Early diagnosis of the disease is crucial for timely treatment and rehabilitation measures and improving the prognosis and quality of life of the child. The interest of the presented clinical observation of Kabuki syndrome lies in the importance of early recognition of clinical manifestations, timely surgical treatment, hearing rehabilitation and improving the prognosis of the patient’s life. The article describes a clinical observation, genetically confirmed type 1 Kabuki syndrome, in a child born in 2015 (type of inheritance not established). The interest of the presented clinical observation of Kabuki syndrome, manifested by characteristic facial features, skeletal anomalies, postnatal growth retardation, dermatoglyphic anomalies, intellectual retardation, lies in the need for a multidisciplinary approach to the diagnosis and treatment of the patient.
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##article.viewOnOriginalSite##About the authors
Oksana K. Gorkina
Saint Petersburg State Pediatric Medical University
Author for correspondence.
Email: gorkina-ok@yandex.ru
ORCID iD: 0000-0002-2527-9023
Assistant of the Department of Otorhinolaryngology
Russian Federation, Saint PetersburgPavel V. Pavlov
Saint Petersburg State Pediatric Medical University
Email: pvpavlov@mail.ru
ORCID iD: 0000-0002-4626-201X
MD, PhD, Dr. Med. Sci., Professor, Head of the Department of Otorhinolaryngology
Russian Federation, Saint PetersburgMaria L. Zakharova
Saint Petersburg State Pediatric Medical University
Email: dr.essina@mail.ru
ORCID iD: 0000-0001-6410-3533
MD, PhD, Dr. Med. Sci., Associate Professor of the Department of Otorhinolaryngology
Russian Federation, Saint PetersburgNadezhda V. Nikitina
Saint Petersburg State Pediatric Medical University
Email: nadyan270798@mail.ru
ORCID iD: 0000-0003-1956-4124
Clinical Resident of the Department of Otorhinolaryngology
Russian Federation, Saint PetersburgReferences
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