Tricho-rhino-phalangeal syndrome type i
Eroğlu, Y.; Erçal, D.
Turkish Journal of Pediatrics 38(4): 537-542
1996
ISSN/ISBN: 0041-4301 PMID: 8993187 Document Number: 458668
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.