Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome

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Çocuk Dergisi
Volume:23 Issue:2
Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome

Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome

Authors : Özge BABA, Hakan KİSAOGLU, Mukaddes KALYONCU

Pages : 199-202

Doi:10.26650/jchild.2023.1251787

View : 46 | Download : 51

Publication Date : 2023-06-30

Article Type : Other Papers

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

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