Kabuki make-up syndrome with unilateral renal agenesis
Rosti, R.O.ür.; Kayserili, H.ül.
Turkish Journal of Pediatrics 51(3): 298-300
2009
ISSN/ISBN: 0041-4301 PMID: 19817278 Document Number: 637504
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.