Kabuki make-up syndrome with unilateral renal agenesis.

نویسندگان

  • Rasim Ozgür Rosti
  • Hülya Kayserili
چکیده

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.

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عنوان ژورنال:
  • The Turkish journal of pediatrics

دوره 51 3  شماره 

صفحات  -

تاریخ انتشار 2009