Clinical Heterogeneity of Kabuki Syndrome: Study of Moroccan Patients

Kabuki syndrome (KS, Niikawa-Kuroki syndrome, MIM:147920) is a rare multiple congenital anomaly/mental retardation syndrome described simultaneously by Niikawa et al, 1988 and Kuroki et al, 1981. The estimated frequency of this syndrome is about 1/32 000 in Japan. KS is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis has been recently eluciated. In our report, we present three patients with different clinical features. The first is 17 years old, with a rare congenital heart defect, a perception deafness, neurogenic bladder, facial dysmorphy, joint hyperlaxity and fetal pads . The second patient presents mental retardation, dysmorphic features and seizures. In the third case, there was a mild mental retardation with joint hyperlaxity, facial features and fetal pads. Through the study of these three cases we confirmed that the phenotypic heterogeneity of the kabuki syndrome which makes it under diagnosed.