Kabuki make-up syndrome with unilateral renal agenesis.
Title | Kabuki make-up syndrome with unilateral renal agenesis. |
Publication Type | Journal Article |
Year of Publication | 2009 |
Authors | Rosti RO, Kayserili H |
Journal | The Turkish journal of pediatrics |
Volume | 51 |
Issue | 3 |
Pagination | 298-300 |
Date Published | 2009 May-Jun |
ISSN | 0041-4301 |
Keywords | Abnormalities, Multiple, Child, Eyebrows, Eyelids, Facies, Humans, Male, Syndrome, Urogenital Abnormalities |
Abstract | Kabuki syndrome is a multiple congenitali anomalyi/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 fissuresi with everted lower eyelids, arched eyebrows, fleshy-cup-shaped ears and trapezoidi philtrumi, 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 agenesisi of the left kidney. We draw attention to the frequency and diversity of urogenital anomalies in this syndrome. |
Alternate Journal | Turk. J. Pediatr. |
Citation Key | 395 |
- Login to post comments
- Google Scholar