Article
A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.
International journal of molecular sciences - 9 Mar 2026
Vasilyeva Tatyana, Kashirskaya Nataliya, Mukhina Anna, Bobreshova Anastasia, Melyanovskaya Yuliya, Karpova Olga, Kazakov Dmitriy, Marakhonov Andrey, Pershin Dmitry, Kondratyeva Elena, Mikhalchuk Kristina, Selina Ekaterina, Sibgatullina Farida, Shakirova Almazia, Vafina Zulfia, Shcherbina Anna, Zinchenko Rena
Abstract excerpt
The article presents a clinical case involving a patient with presumptive coexistence of two hereditary disorders, confirmed by molecular genetic analyses. Clinical evaluation of the proband, a 9-year-old girl, revealed features characteristic of Kabuki syndrome, including a typical "Kabuki makeup" facial phenotype, short stature, intracranial hypertension, and diffuse muscular hypotonia. Additional clinical...
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