Severe scoliosis and restrictive lung disease associated with Goldenhar syndrome: A case report
Turkish Journal of Physical Medicine and Rehabilitation, cilt.72, sa.1, ss.132-136, 2026 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 72 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.5606/tftrd.2026.16471
- Dergi Adı: Turkish Journal of Physical Medicine and Rehabilitation
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.132-136
- Anahtar Kelimeler: Congenital, Goldenhar syndrome, restrictive lung disease, scoliosis
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Goldenhar syndrome is a rare congenital condition associated with a wide range of phenotypic variations resulting structural abnormalities in the face, eyes, ears and various organs. Primary findings are vertebral abnormalities which are mainly localized in cervical and thoracic regions. Scoliosis may develop as a result of vertebral abnormalities and can cause important clinical outcomes and disability. Diagnosis is usually made by physical examination and radiological imaging; however, genetic consultation may be required to confirm the diagnosis. Treatment protocol varies according to age and the severity of clinical manifestations.