NICOLAIDES — BAREITZER SYNDROME ( NCBRS): CLINICAL CASE

Получена: 05.04.2024/Принята: 14.10.2024/Опубликована online: 29.10.2024
УДК 616-056.7:616-079
DOI: 10.53511/pharmkaz.2024.50.65.001
Korlan Z. Saduakassova1, Gulnara S. Svyatova2, Alexandra V. Murtazaliyeva 2, Gulzhan T. Kassenova1
1Al FarabiKazakh National University,
Higher School of Medicine, Faculty of Medicine and HealthCare, Almaty, Kazakhstan
2JSC «Scientific Center of Obstetrics, Gynecology and Perinatology»,
Republican Medical Genetic Consultation, Almaty, Kazakhstan
NICOLAIDES — BAREITZER SYNDROME ( NCBRS): CLINICAL CASE
Abstract: Nicolaides-Baraitser syndrome (NCBRS) is a rare autosomal dominant disorder with an unknown prevalence. It is
recognized as a distinct clinical entity, although symptoms may vary. Key features include intellectual disability, unique facial
characteristics such as sparse scalp hair, coarse facial features, a low frontal hairline, microcephaly, and seizures. This
syndrome is typically inherited in an autosomal dominant pattern and is caused by de novo mutations in the SMARCA2 gene,
primarily missense mutations. We present the case of a 12-year-old girl with NCBRS in Almaty, featuring a confirmed molecular
diagnosis and a mild-to-moderate phenotype, contributing to the limited documentation of this syndrome in Central Asia.
Keywords: Nicolaides-Baraitser syndrome, phenotype, SMARCA2, intellectual disability, expressive speech disorder, heredity.

Скачать: NICOLAIDES - BAREITZER SYNDROME ( NCBRS): CLINICAL CASE
Скачано: 48, размер: 799.0 KB, дата: 2024
количество просмотров / 👁 229

Оставить ответ

Ваш e-mail не будет опубликован. Обязательные поля помечены *