Salvatore Michele Carnazzo, Desirèe Balconara, Francesco Caruso, Giusi Maria Caltabiano
The Kabuki syndrome (KS) represents a rare congenital condition characterized by a distinctive amalgamation of craniofacial anomalies, developmental irregularities, and intellectual impairments. This investigative pursuit aims to conduct an exhaustive exploration of KS via a detailed case series analysis, with a specific focus on elucidating its clinical manifestations and probing its genetic foundations. A cohort comprising nine KS patients was meticulously identified through a retrospective review of medical records spanning from 1996 to 2022. These patients underwent a comprehensive array of clinical assessments, radiological examinations, neuropsychological evaluations, and targeted genetic analyses, particularly centered on the KMT2D and KDM6A genes. The median age of diagnosis, approximately 4.7 years, demonstrated a male-to-female ratio of 6:3. Prominently evident among the clinical features were distinctive facial dysmorphisms, including arched eyebrows and elongated eyelashes, alongside ear anomalies, fingertip pads, nasolabial irregularities, and oral malformations. Ophthalmological and otological manifestations were notably discernible, along with a spectrum of cardiovascular, gastrointestinal, and endocrine abnormalities. The prevalence of neuropsychological disorders underscored the complex nature of cognitive and behavioral challenges experienced by KS patients. Consistent with our clinical observations, genetic analyses affirmed the involvement of variants in the KMT2D and KDM6A genes in the pathogenesis of KS. In conclusion, this investigation unequivocally underscores the paramount significance of accurate diagnosis, the adoption of a multidisciplinary care paradigm, and the implementation of tailored interventions for individuals afflicted by KS. Additionally, it highlights the imperative for sustained research endeavors aimed at unraveling the genetic intricacies and molecular mechanisms underpinning this enigmatic syndrome.
