Precocious puberty associated with oral-facial-digital syndrome type I.
A girl with the oral-facial-digital syndrome type I (OFD I) developed precocious puberty at early infancy. This is presumed to be due to a hamartoma in the tuber cinereum region. Hypothalamic hamartomas have not been described in OFD I earlier, whereas lingual hamartomas are a common feature in this condition.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D000368:Aged; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D006222:Hamartoma / Q000175:diagnosis*; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000175:diagnosis*; D011629:Puberty, Precocious / Q000175:diagnosis*; D013577:Syndrome; D014059:Tongue / Q000002:abnormalities*; D014071:Tooth Abnormalities / Q000175:diagnosis; D014371:Tuber Cinereum / Q000473:pathology