Tricho-rhino-phalangeal syndrome type II: Langer-Giedion syndrome in a 2.5 years-old boy.
A 2.5 year-old boy is described with a typical tricho-rhino-phalangeal dysplasia type II (Langer-Giedion syndrome). The multiple exostoses appeared before the age of 2 years.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome