Kabuki make-up syndrome with unilateral renal agenesis.

TitleKabuki make-up syndrome with unilateral renal agenesis.
Publication TypeJournal Article
Year of Publication2009
AuthorsRosti RO, Kayserili H
JournalThe Turkish journal of pediatrics
Volume51
Issue3
Pagination298-300
Date Published2009 May-Jun
ISSN0041-4301
KeywordsAbnormalities, 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 JournalTurk. J. Pediatr.
Citation Key395