Clinical observation of genetically confirmed Kabuki syndrome type 1, with an undetermined type of inheritance, in a 7-year-old child

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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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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 Petersburg

Pavel 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 Petersburg

Maria 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 Petersburg

Nadezhda 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 Petersburg

References

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Supplementary files

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2. Fig. 1. Results of the 2nd stage of audiological screening in 2016 — the threshold for registration of short-latency auditory evoked potentials by air conduction on the right (AD) 70 dB, on the left (AS) = 100 dB above hearing threshold

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3. Fig. 2. Computed tomogram of the temporal bones in the axial projection of the patient — incomplete division of the cochlea type 2

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4. Fig. 3. Facial features characteristic of the Kabuki syndrome, of the patient: arched eyebrows with a sparse lateral part, a wide tip of the nose, large low-lying ears with protruding tips (2022)

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5. Fig. 4. Violation of posture

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6. Fig. 5. Hallux valgus

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7. Fig. 6. Protruding fetal pads on the fingertips

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8. Fig. 7. Conclusion Based on the results of a DNA in a patient study by clinical sequencing, the variant chr12:49033838G>A was detected in the KMT2D gene in a heterozygous state

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