Referanslar:
1. Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014;7:117-125. Published online June 24, 2014. 2. Hoover-Fong J, Scott CI, Jones MC; Committee on Genetics. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010. 3. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1. 4. Unger S, Bonafé L, Gouze E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep. 2017;15(2):53-60. 5. Shirley ED, Ain MC. Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 2009;17(4):231-241. 6. Ain MC, Abdullah MA, Ting BL, et al. Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. J Neurosurg Spine. 2010;13(3):335-340. 7. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705-712. 8. Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in achondroplasia. Am J Med Genet. 1988;31(3):597-602. 9. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020;97(1):179-197. 10. Ednick M, Tinkle BT, Phromchairak J, Egelhoff J, Amin R, Simakajornboon N. Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 2009;155(4):510-515. 11. Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R. Growth of the foramen magnum in achondroplasia. Am J Med Genet. 1989;32(4):528-535. 12. Julliand S, Boulé M, Baujat G, et al. Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. Am J Med Genet A. 2012;158A(8):1987-1993. 13. Brinkmann G, Schlitt H, Zorowka P, Spranger J. Cognitive skills in achondroplasia. Am J Med Genet. 1993;47(5):800-804. 14. Tunkel D, Alade Y, Kerbavaz R, Smith B, Rose-Hardison D, Hoover-Fong J. Hearing loss in skeletal dysplasia patients. Am J Med Genet A. 2012;158A(7):1551-1555. 15. Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162-172. 16. Ireland PJ, Johnson S, Donaghey S, et al. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010;31(1):41-47. 17. Hecht JT, Francomano CA, Horton WA, Annegers JF. Mortality in achondroplasia. Am J Hum Genet. 1987;41(3):454-464. 18. Ireland PJ, McGill J, Zankl A, et al. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011;53(10):944-950. 19. Stanley G, McLoughlin S, Beals RK. Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 2002;22(1):112-116. 20. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134. 21. Galasso C, Siracusano M, El Malhany N, Cerminara C, Pitzianti M, Terribili M. Cognitive phenotype and language skills in children with achondroplasia. Minerva Pediatr. 2019;71(4):343-348. 22. Afsharpaiman S, Saburi A, Waters KA. Respiratory difficulties and breathing disorders in achondroplasia. Paediatr Respir Rev. 2013;14(4):250-255. 23. Takken T, van Bergen MW, Sakkers RJ, Helders PJ, Engelbert RH. Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia. J Pediatr. 2007;150(1):26-30. 24. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: relation to fibular overgrowth. J Bone Joint Surg Br. 2007;89(1):57-61. 25. Thompson S, Shakespeare T, Wright MJ. Medical and social aspects of the life course for adults with a skeletal dysplasia: a review of current knowledge. Disabil Rehabil. 2008;30(1):1-12. 26. Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT. Mortality in achondroplasia study: a 42-year follow-up. Am J Med Genet A. 2007;143A:2502–2511. 27. Taşoğlu Ö, Şahin Onat Ş, Yenigün D, Doğan Aslan M, Nakipoğlu GF, Ozgirgin N. Low bone density in achondroplasia. Clin Rheumatol. 2014;33(5):733-735. 28. Vivanti AJ, Cordier AG, Baujat G, Benachi A. Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. Orphanet J Rare Dis. 2016;11(1):166. 29. Allanson JE, Hall JG. Obstetric and gynecologic problems in women with chondrodystrophies. Obstet Gynecol. 1986;67(1):74-78. 30. Legare JM. Achondroplasia. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993-2020. October 12, 1998 [Updated August 6, 2020]. https://www.ncbi.nlm.nih.gov/books/NBK1152.