A Clinical Case of CNOT3 Syndrome in a 10-Year-Old Girl

    December 2025 in “ Meditsinskiy sovet = Medical Council ”
    E. E. Baranova, I. M. Osmanov, I.D. Maykova, E. V. Skorobogatova, Zh. V. Polyakova, E.E. Efremova, Shuleshko Ov, E. A. Afana, Zakharova In
    TLDR Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
    A 10-year-old girl was diagnosed with CNOT3 syndrome, a rare genetic disorder linked to a microdeletion in the 19q13.42 region, after presenting with abdominal pain, nausea, headaches, and dysmorphic facial features. Her medical history included atopic and perianal dermatitis, distal reflux esophagitis, gastritis, and mental retardation. Physical examination showed hirsutism and latent iron deficiency, but a normal hormonal profile. The case underscores the necessity of early diagnosis and a multidisciplinary treatment approach involving specialists like gastroenterologists, neurologists, and endocrinologists for managing rare genetic syndromes.
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