Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a
bulbous nose, sparse hair and epiphyseal coning. Autosomal dominant a
nd recessive transmission are suggested. The presence of cone-shaped e
piphyses, the major complaint of patients due to swelling over the pha
langeal joints, requires differential diagnosis among various syndrome
s. This paper, describing a ten-year-old girl with TRPS I, aims to bri
ng the features of the syndrome to medical attention.