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Kabuki Syndrome Diagnosed in utero: Clinical Case Reported in Santander, Colombia
German Andres Guevara Lizarazo, Sergio Andrés Córdoba Silvestre, Rosalia Briceño Mora, Mariana Catalina Blanco Restrepo
Affiliation: Universidad Autonoma de Bucaramanga, Colombia
Keywords: Kabuki Syndrome, KMT2D, KDM6A, Prenatal Ultrasound, UTX gen, MLL2 gen.
Categories: Medicine
DOI: 10.17160/josha.12.3.1045
Languages: English
Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in the KMT2D or KDM6A genes, affecting development and leading to multiple malformations. Diagnosis is usually postnatal, although prenatal detection through ultrasound and genetic testing can be key. A case was presented in Santander, Colombia, where a male fetus exhibited anomalies on ultrasound, including cleft lip and palate, complex heart disease, and skeletal malformations. Due to the suspicion of KS, a chromosomal microarray was performed, confirming a mutation in KDM6A. The postnatal diagnosis corroborated the phenotypic characteristics of the syndrome. This case highlights the importance of prenatal ultrasound in detecting suggestive signs of KS and guiding confirmatory genetic studies. It is the first reported case with KDM6A in the region, expanding knowledge about KS in Latin America. Early identification enables optimized neonatal management and improved prognosis.