title: Kabuki make-up syndrome with unilateral renal agenesis.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.
authors.forename: Rasim Ozgür
authors.initials: RO
authors.lastname: Rosti
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D005138:Eyebrows / Q000002:abnormalities*; D005143:Eyelids / Q000002:abnormalities*; D019066:Facies; D006801:Humans; D008297:Male; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000175:diagnosis*