Category: Volume 14, Issue 2,2020
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Kabuki syndromeis 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 behavioural development, but
still has high liver enzymes.
Key words: Kabuki syndrome, Coarctation of the aorta, Biliary atresia, Advanced paternal


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