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.
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