First Clinical Case report of a Libyan Girl with Kabuki Syndrome and Literature review

Abstract

Kabuki syndrome is a rare autosomal disorder, diagnosed by presence of dysmorphic facies, mental retardation, short stature, skeletal and visceral abnormalities and cardiac anomalies. It is caused by a mutation in the KMT2D gene also known as MLL2 and in fewer cases due to mutations in the KDM6A gene.  We report on the first description of a 2-year-old Libyan girl with Kabuki syndrome with typical facial features, skeletal abnormalities (fingertip foetal pads, brachydactyly, clinodactyly of the little finger, single simian crease, and abnormal lower limbs), cardiac anomalies, biliary atresia, single kidney and developmental dysplasia of the hips DDH. The patient also suffered from recurrent infections which has been noted in KS patients. The patient so far has shown normal neurological and behavioral development, but still has high liver enzymes