The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 3
Kabuki make-up syndrome with unilateral renal agenesis
Department of Medical Genetics, İstanbul University İstanbul Faculty of Medicine, İstanbul, Turkey1,
Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome
with a diagnosis that is dependent upon clinical findings. Recognition of
this entity is based upon unique facial appearance, including long palpebral
fissures with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears
and trapezoid philtrum, postnatal growth retardation, and mild to moderate
mental retardation. We here report a seven-year, seven-month-old male
patient with Kabuki syndrome who also had agenesis of the left kidney.
We draw attention to the frequency and diversity of urogenital anomalies
in this syndrome.
Keywords :
Kabuki syndrome, multiple congenital anomaly/mental retardation, renal agenesis, eversion of lower eyelid, trapezoid philtrum.