- Çocuk Dergisi
- Vol: 23 Issue: 2
- Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome
Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome
Authors : Özge Baba, Hakan Kisaoglu, Mukaddes Kalyoncu
Pages : 199-202
Doi:10.26650/jchild.2023.1251787
View : 32 | Download : 41
Publication Date : 2023-06-30
Article Type : Research Article
Abstract :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.Keywords : Brakidaktili, Hipermobilite, Trikorinofalangeal Sendrom