Tricho-rhino-phalangeal syndrome type I

Eroglu Y., Ercal D.

TURKISH JOURNAL OF PEDIATRICS, vol.38, no.4, pp.537-542, 1996 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 4
  • Publication Date: 1996
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.537-542
  • Keywords: tricho-rhino-phalangeal syndrome, cone-shaped epiphysis, INTERSTITIAL DELETION
  • Dokuz Eylül University Affiliated: No

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.