Achondroplasia: Manifestations and treatment

Journal of the American Academy of Orthopaedic Surgeons

Volumn 17, Issue 4, 2009, Pages 231-241

  Shirley, Eric D ^a   Ain, Michael C ^b  

^a NAVAL MEDICAL CENTER PORTSMOUTH   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; CONGENITAL MALFORMATION; FORAMEN MAGNUM; HUMAN; INSTRUMENTATION; KYPHOSIS; LORDOSIS; METHODOLOGY; ORTHOPEDIC SURGERY; RADIOGRAPHY; REVIEW; VERTEBRAL CANAL STENOSIS;

ACHONDROPLASIA; FORAMEN MAGNUM; HUMANS; KYPHOSIS; LORDOSIS; ORTHOPEDIC PROCEDURES; SPINAL STENOSIS;

EID: 66349093172     PISSN: 1067151X     EISSN: None     Source Type: Journal    
DOI: 10.5435/00124635-200904000-00004     Document Type: Review

References (38)

1. Oberklaid F, Danks DM, Jensen F, Stace L, Rosshandler S: Achondroplasia and hypochondroplasia: Comments on frequency, mutation rate, and radiological features in skull and spine. J Med Genet 1979;16:140-146.
2. Parrot MJ: Sur la malformation achondroplasique et le Dieu Phtah. Bull Soc Anthropol 1878;1:296-308.
3. Bailey JA II : Orthopaedic aspects of achondroplasia. J Bone Joint Surg Am 1970;52:1285-1301.
4. Kopits SE: Orthopedic complications of dwarfism. Clin Orthop Relat Res 1976;114:153-179.
5. Rousseau F, Bonaventure J, Legeai-Mallet L, et al: Mutations in the gene encoding fibroblast growth factor reeeptor-3 in achondroplasia. Nature 1994;371:252-254.
6. Horton WA: Recent milestones in achondroplasia research. Am J Med Genet A 2006;140:166-169.
7. Webster MK, Donoghue DJ: Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. EMBO J 1996;15:520-527.
8. Unger S: A genetic approach to the diagnosis of skeletal dysplasia. Clin Orthop Relat Res 2002;401:32-38.
9. Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics: Health supervision for children with achondroplasia. Pediatrics 2005;116:771-783.
10. Bagley CA, Pindrik JA, Bookland MJ, Camara-Quintana JQ, Carson BS: Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 2006;104(3 suppl):166-172.
11. Kopits SE: Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children. Basic Life Sci 1988;48:241-255.
12. Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA: Prevention of fixed, angular kyphosis in achondroplasia. J Pediatr Orthop 1997;17:726-733.
13. Lonstein JE: Treatment of kyphosis and lumbar stenosis in achondroplasia. Basic Life Sci 1988;48:283-292.
14. Tolo VT: Surgical treatment of kyphosis in achondroplasia. Basic Life Sci 1988;48:257-259.
15. Ain MC, Browne JA: Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine 2004;29:2075-2080.
16. Ain MC, Shirley ED: Spinal fusion for kyphosis in achondroplasia, J Pediatr Orthop 2004;24:541-545.
17. Sarlak AY, Buluç L, Anik Y, Memişoǧlu K, Kurtgöz B: Treatment of fixed thoracolumbar kyphosis in immature achondroplastic patient: Posterior column resection combined with segmental pedicle screw fixation and posterolateral fusion. Eur Spine J 2004;13:458-461.
18. Qi X, Matsumoto M, Ishii K, Nakamura M, Chiba K, Toyama Y: Posterior osteotomy and instrumentation for thoracolumbar kyphosis in patients with achondroplasia. Spine 2006;3 LE606-E610.
19. Park HW, Kim HS, Hahn SB, et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop Relat Res 2003;414:242-249.
20. Lutter LD, Longstein JE, Winter RB, Langer LO: Anatomy of the achondroplastic lumbar canal. Clin Orthop Relat Res 1977;126:139-142.
21. Lutter LD, Langer LO: Neurological symproms in achondroplastic dwarfs: Surgical treatment. J Bone Joint Surg Am 1977;59:87-92.
22. Bethem D, Winter RB, Lutter L, et al: Spinal disorders of dwarfism: Review of the literature and report of eighty cases. J Bone Joint Surg Am 3 981;63:1412-1425.
23. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr: Medical complications of achondroplasia: A multicentre patient review. J Med Genet 1998;35:705-712.
24. Pyeritz RE, Sack GH Jr, Udvarhelyi GB: Thoracolumbosacral laminectomy in achondroplasia: Long-term results in 22 patients. Am J Med Genet 1987;28:433-444.
25. Ain MC, Shirley ED, Pirouzmanesh A, Hariri A, Carson BS: Postlaminectomy kyphosis in the skeletally immature achondroplast. Spine 2006;31:197-201.
26. Srikumaran U, Woodard EJ, Leet Al, Rigamonti D, Sponseller PD, Ain MC: Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population. Spine 2007;32:2423-2431.
27. Stanley G, McLoughlin S, Beals RK: Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop 2002;22:112-116.
28. Ain MC, Shirley ED, Pirouzmanesh A, Skolasky RL, Leet AI: Genu varum in achondroplasia. J Pediatr Orthop 2006;26:375-379.
29. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH: Development of genu varum in achondroplasia: Relation to fibular overgrowth. J Berne Joint Surg Br 2007;89:57-61.
30. Song HR, Choonia AT, Hong SJ, et al: Rotational profile of the lower extremity in achondroplasia: Computed tomographic examination of 25 patients. Skeletal Radiol 2006;35:929-934.
31. Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG: Standard growth curves for achondroplasia. J Pediatr 1978;93:435-438.
32. Paley D, Matz AL, Kurland DB, Lamm BM, Herzenberg JE: Multiplier method for prediction of adult height in patients with achondroplasia. J Pediatr Orthop 2005;25:539-542.
33. Kanazawa H, Tanaka H, Inoue M, Yamanaka Y, Namba N, Seino Y: Efficacy of growth hormone therapy for patients with skeletal dysplasia. J Bone Miner Metab 2003;21:307-310.
34. Hertcl NT, Eklöf O, Ivarsson S, et ah Growth hormone treatment in 35 prepubertal children with achondroplasia: A five-year dose-response trial. Acta Paediatr 2005;94:1402-1410.
35. Aldegheri R, Dall'Oca C: Limb lengthening in short stature patients. J Pediatr Orthop B 2001;10:238-247.
36. Haga N: Management of disabilities associated with achondroplasia. J Orthop Sci 2004;9:103-107.
37. Hecht JT, Francomano CA, Horton WA, Annegers JF: Mortality in achondroplasia. Am J Hum Genet 1987;41:454-464.
38. Gollust SE, Thompson RE, Gooding HC, Biesecker BB: Living with achondroplasia in an average-sized world: An assessment of quality of life. Am J Med Genet A 2003;120A:447-458.