ea0090p269 | Late-Breaking | ECE2023
Chelaru Nicoleta
, Vasiliu Ioana
, Puscasu Irina
, Nita Diana-Elena
, Starcea Iuliana-Magdalena
, Preda Cristina
, Florescu Alexandru
Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...