Kabuki make-up syndrome in a Caucasian.
A 20-year-old Caucasian female with the Kabuki make-up syndrome had adolescent onset cataracts and delayed sexual maturation with evidence of primary ovarian dysfunction. These features have not been described in other patients with this disorder, all of whom have been younger. This patient also had cystic fibrosis, which may be a fortuitous association.
D000328:Adult; D002386:Cataract / Q000150:complications*; D003550:Cystic Fibrosis / Q000150:complications; D004392:Dwarfism / Q000150:complications; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D012741:Sexual Maturation; D013577:Syndrome