Tricho-rhino-phalangeal syndrome type I

Eroglu Y., Ercal D.

TURKISH JOURNAL OF PEDIATRICS, cilt.38, sa.4, ss.537-542, 1996 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 4
  • Basım Tarihi: 1996
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.537-542
  • Anahtar Kelimeler: tricho-rhino-phalangeal syndrome, cone-shaped epiphysis
  • Dokuz Eylül Üniversitesi Adresli: Hayır

Özet

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.