Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome

BABA Ö., KISAOĞLU H., KALYONCU M.

JOURNAL OF CHILD - COCUK DERGISI, cilt.23, sa.2, ss.199-202, 2023 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 2
  • Basım Tarihi: 2023
  • Doi Numarası: 10.26650/jchild.2023.1251787
  • Dergi Adı: JOURNAL OF CHILD - COCUK DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.199-202
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Trichorhinophalangeal syndrome is a rare disease caused by variations in the TRPS1 gene. The disease is characterized by slowly growing hair/nail and skeletal malformations, including brachydactyly and cone-shaped epiphysis. Hip problems are frequently observed, and musculoskeletal pain associated with hypermobility may also occur. Recognition of dysmorphic features associated with this rare disease may lead to prompt diagnosis and improved care of these patients. Herein, we present a paediatric case with longstanding complaints diagnosed with the trichorhinophalangeal syndrome.