Trichorhinophalangeal dysplasia (Giedion syndrome). A case report.
This rare syndrome is characterized by short stature, sparse, fine scalp hair, a pear-shaped nose, long philtrum, normal intelligence, and cone-shaped epiphyses of the phalanges with deformities of the fingers.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000293:Adolescent; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006197:Hair / Q000254:growth & development*; D006801:Humans; D008297:Male; D009666:Nose / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*