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-...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2009-06-01
|
| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2305 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850042021017812992 |
|---|---|
| author | Rasim Ozgür Rosti Hülya Kayserili |
| author_facet | Rasim Ozgür Rosti Hülya Kayserili |
| author_sort | Rasim Ozgür Rosti |
| collection | DOAJ |
| description |
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.
|
| format | Article |
| id | doaj-art-043d34306cc84f14bf93c01af1d4eb65 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2009-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-043d34306cc84f14bf93c01af1d4eb652025-08-20T02:55:39ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212009-06-01513Kabuki make-up syndrome with unilateral renal agenesisRasim Ozgür Rosti0Hülya KayseriliDepartment of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey. 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. https://turkjpediatr.org/article/view/2305 |
| spellingShingle | Rasim Ozgür Rosti Hülya Kayserili Kabuki make-up syndrome with unilateral renal agenesis The Turkish Journal of Pediatrics |
| title | Kabuki make-up syndrome with unilateral renal agenesis |
| title_full | Kabuki make-up syndrome with unilateral renal agenesis |
| title_fullStr | Kabuki make-up syndrome with unilateral renal agenesis |
| title_full_unstemmed | Kabuki make-up syndrome with unilateral renal agenesis |
| title_short | Kabuki make-up syndrome with unilateral renal agenesis |
| title_sort | kabuki make up syndrome with unilateral renal agenesis |
| url | https://turkjpediatr.org/article/view/2305 |
| work_keys_str_mv | AT rasimozgurrosti kabukimakeupsyndromewithunilateralrenalagenesis AT hulyakayserili kabukimakeupsyndromewithunilateralrenalagenesis |