TY - JOUR T1 - A Rare Cause of Scoliosis: Brachyolmia Type 3 TT - Skolyozun Nadir Bir Nedeni: Brakiyolmia Tip 3 AU - Yağmur Göz, Neslihan PY - 2025 DA - August Y2 - 2025 JF - Journal of Anatolian Medical Research JO - JAMER PB - Kayseri Şehir Eğitim ve Araştırma Hastanesi WT - DergiPark SN - 2587-1153 SP - 43 EP - 45 VL - 10 IS - 2 LA - en AB - Brachiolmia type 3 is a rare genetic syndrome that can cause curvature of the spine, kyphosis, andchronic spine pain. In this case report, skeletal dysplasia was observed in the anamnesis of the patientwho presented with low back pain and was noticed to have scoliosis during the physical examination.Suspicion is based on radiographic findings and definitive diagnosis is made by genetic testing. In treatment,a rehabilitation program should be created to manage the symptoms. Scoliosis exercises, breathingexercises, posture exercises and analgesic electrotherapy currents should be kept in mind in the treatment. KW - Brachyolmia KW - rehabilitation KW - scoliosis N2 - Brakiyolmia tip 3, omurganın eğriliğine, kifoza ve kronik omurga ağrısına neden olabilen nadir bir genetiksendromdur. Bu olgu sunumunda bel ağrısı şikayeti ile başvuran ve fizik muayenesinde skolyozu fark edilenhastanın anamnezinde iskelet displazisi izlendi. Şüphe, radyografik bulgulara dayanır ve kesin tanı genetiktestlerle konur. Tedavide semptomların yönetimine yönelik bir rehabilitasyon programı oluşturulmalıdır. Tedavideskolyoz egzersizleri, nefes egzersizleri, postür egzersizleri ve analjezik elektroterapi akımları akılda tutulmalıdır. CR - 1. Shohat M, Lachman R, Gruber HE, Rimoin DL. Brachyolmia: radiographic and genetic evidence of heterogeneity. Am J Med Genet. 1989;33(2):209-219. CR - 2. Toft-Bertelsen TL, Macaulay N. TRPing to the Point of Clarity: Understanding the function of the complex TRPV4 Ion channel. cells. 2021 Jan 1;10(1):1-16. CR - 3. O’Conor CJ, Leddy HA, Benefield HC, Liedtke WB, Guilak F. TRPV4-mediated mechanotransduction regulates the metabolic response of chondrocytes to dynamic loading. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1316-1321. CR - 4. Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet. 2008 Aug;40(8):999-1003. CR - 5. Wang Z, Zhou L, An D, Xu W, Wu C, Sha S, et al. TRPV4-induced inflammatory response is involved in neuronal death in pilocarpine model of temporal lobe epilepsy in mice. Cell Death & Disease 2019 10:6. 2019 May 16;10(6):1-10. CR - 6. Li AW, Chang A, Murphy JS, Li Y, Roye B, Hardesty CK, et al. Current practices in MRI screening in early onset scoliosis. Spine Deform. 2025; 13(3):961-966. CR - 7. Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A. 2014;164A(7):1635-1641. CR - 8. Kozlowski K. Platyspondyly in childhood. Pediatr Radiol. 1974 Jun;2(2):81-87. CR - 9. Gardner J, Beighton P. Brachyolmia: an autosomal dominant form. Am J Med Genet . 1994;49(3):308-312. CR - 10. Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al. Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course. Am J Med Genet A. 2014;164A(7):1635-1641. CR - 11. Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB. Autosomal dominant brachyolmia: transient metaphyseal striations. Skeletal Radiol. 2017 Sep 1 ;46(9):1297-300. CR - 12. Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, et al. TRPV4-Associated skeletal dysplasias. Am J Med Genet C Semin Med Genet. 2012; 160:190-204. CR - 13. Author MJR, Genet N. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia $watermark-text $watermark-text $watermark-text. 2008;40(8):999-1003. CR - 14. Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB. Autosomal dominant brachyolmia: transient metaphyseal striations. Skeletal Radiol. 2017 Sep 1;46(9):1297-1300. CR - 15. BA M, A S, JE HF, CJ S. Autosomal Dominant TRPV4 Disorders. GeneReviews®. 1993 CR - 16. Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, et al. A rare case of brachyolmia with amelogenesis imperfecta caused by a new pathogenic splicing variant in LTBP3. 2021. UR - https://dergipark.org.tr/tr/pub/jamer/issue//1486646 L1 - https://dergipark.org.tr/tr/download/article-file/3941227 ER -