Premature thelarche in Kabuki make-up syndrome.
A 2 year old girl who has Kabuki make-up syndrome with isolated premature thelarche is presented. She has unique ocular abnormalities which have not been reported previously. In the literature at least 85 patients, most of them from Japan, have been reported. This is the first reported non-Japanese Asian case.
Tutar
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HE
Department of Pediatrics and Pediatric Endocrinology, Ankara University Faculty of Medicine, Turkey.
Ocal
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Ince
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Cin
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D001842:Bone and Bones / Q000002:abnormalities*; D001940:Breast / Q000002:abnormalities* / Q000254:growth & development; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D011629:Puberty, Precocious / Q000150:complications*; D013577:Syndrome