Prenatal Phenotype of Kabuki Syndrome: Seven Case Series

Abstract

<b><i>Introduction:</i></b> Kabuki syndrome (KS) is a multiple congenital anomaly syndrome with characterized facial features. The aim of study was to report on prenatal sonographic findings associated with KS in 7 Chinese families. <b><i>Case Presentation:</i></b> During the study period, 7 families of KS were diagnosed. Variants of KMT2D were detected in 4 cases, and variants of KDM6A in 3 cases. For cases with KMT2D variants, cleft palate was the only finding on second-trimester ultrasound in 2 cases. One case presented with polyhydramnios in late third trimester. One case showed ventricular septal defect and renal anomaly at 22 weeks gestation. For cases with <i>KDM6A</i> variants, one was detected at 22 weeks to have coarctation of the aorta. One presented with third-trimester intrauterine growth restriction. The other with hypoplastic left heart had a maternal KDM6A variant c.1227_1228del. Further family study showed that this variant was also present in the healthy maternal mother, but not in the healthy maternal father and two maternal brothers. The two female carriers were healthy. <b><i>Discussion/Conclusion:</i></b> Although there is no specific ultrasound feature which has both high sensitivity and high positive predictive value for KS, this disorder should be considered as a differential diagnosis in fetuses with congenital anomalies including polyhydramnios with normal karyotyping/microarray analysis.