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-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.
Rosti
Rasim Ozgür
RO
Department of Medical Genetics, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.
Kayserili
Hülya
H
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*