title: Tricho-rhino-phalangeal syndrome type I.
abstract: Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant and recessive transmission are suggested. The presence of cone-shaped epiphyses, the major complaint of patients due to swelling over the phalangeal joints, requires differential diagnosis among various syndromes. This paper, describing a ten-year-old girl with TRPS I, aims to bring the features of the syndrome to medical attention.
authors.affiliation: Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir.
authors.forename: Y
authors.initials: Y
authors.lastname: Eroğlu
authors.forename: D
authors.initials: D
authors.lastname: Erçal
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007039:Hypotrichosis / Q000150:complications; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome