A certain set of signs that could be compatible with Kabuki syndrome: a case report of an Iranian girl andreview of literature

This case underscores the diagnostic value of oral and skeletal features in Kabuki syndrome and highlights the importance of multidisciplinary assessment. It reinforces the role of phenotype-driven diagnosis in rare congenital disorders, particularly in patient cases lacking genetic confirmation, and documents a rare thoracic anomaly, pectus excavatum, within the clinical spectrum of Kabuki syndrome.