Kabuki make-up syndrome with unilateral renal agenesis
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-...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2009-06-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2305 |
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| Summary: | 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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| ISSN: | 0041-4301 2791-6421 |