TRICHORHINOPHALANGEAL SYNDROME TYPE-I

Authors
Citation
Y. Eroglu et D. Ercal, TRICHORHINOPHALANGEAL SYNDROME TYPE-I, Turkish Journal of Pediatrics, 38(4), 1996, pp. 537-542
Citations number
11
Categorie Soggetti
Pediatrics
ISSN journal
00414301
Volume
38
Issue
4
Year of publication
1996
Pages
537 - 542
Database
ISI
SICI code
0041-4301(1996)38:4<537:TST>2.0.ZU;2-3
Abstract
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.