Dismorfik Özellikleri Tanımanın Önemi: Trikorinofalangeal Sendrom

Öz

Trikorhinofalangeal sendrom, TRPS1 genindeki mutasyonların neden olduğu nadir bir hastalıktır. Hastalık, koni şeklindeki epifiz ve brakidaktiliyi içeren iskelet malformasyonları ve yavaş büyüyen saç ve tırnak ile karakterizedir. Kalça problemleri sıklıkla gözlenir ve hipermobiliteye bağlı kasiskelet ağrıları da ortaya çıkabilir. Bu nadir hastalıkla ilişkili dismorfik özelliklerin tanınması, bu hastaların hızlı teşhis edilmesini ve daha iyi izlenmesini sağlayabilir. Burada uzun süredir şikayetleri olan ve trikorinofalangeal sendrom tanısı alan bir pediatrik olguyu sunuyoruz.

Anahtar Kelimeler

• Brakidaktili
• Hipermobilite
• Trikorinofalangeal Sendrom

Importance of Recognising Dysmorphic Features: Trichorhinophalangeal Syndrome

Öz

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.

Anahtar Kelimeler

• Brachydactyly
• Cone-Shaped Epiphysis
• Hypermobility
• Legg-Calve-Perthes
• Mitral Valve Prolapse
• Trichorhinophalangeal Syndrome

Kaynakça

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