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Kabuki syndrome: a comprehensive clinical portrait and genetic insight
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Journal Article
Kabuki syndrome: a comprehensive clinical portrait and genetic insight
2024
Overview
This report details the case of a preadolescent female patient diagnosed with Kabuki syndrome, a rare genetic disorder characterised by distinctive facial features, growth delay and cognitive impairment. The patient’s medical history includes perinatal complications, alongside challenges in developmental milestones, feeding and psychomotor skills since infancy, prompting further investigation. Genetic testing confirmed the diagnosis, revealing a full deletion of KDM6A .The patient underwent a multidisciplinary approach, addressing various aspects of her condition, which resulted in significant improvements in several areas. However, despite progress, challenges persist in daily tasks and the acquisition of advanced motor skills. This underscores the necessity of integrated management strategies, emphasizing the diagnostic importance of genetic testing that contributes to a deeper understanding of the clinical spectrum and guides targeted therapeutic interventions. Continued research is crucial to further unravel the complexities of this rare genetic disorder and enhance patient care.
Publisher
BMJ Publishing Group Ltd,BMJ Publishing Group LTD
Subject
Abnormalities, Multiple - diagnosis
/ Abnormalities, Multiple - genetics
/ Child
/ Female
/ Genetic screening / counselling
/ Genetics
/ Hematologic Diseases - diagnosis
/ Hematologic Diseases - genetics
/ Histone Demethylases - genetics
/ Humans
/ Vestibular Diseases - diagnosis
