메뉴 건너뛰기




Volumn 7, Issue , 2014, Pages 117-125

Optimal management of complications associated with achondroplasia

Author keywords

Achondroplasia; Complications; ICF model; Management

Indexed keywords

C NATRIURETIC PEPTIDE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NATRIURETIC FACTOR; UNCLASSIFIED DRUG;

EID: 84903278202     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S51485     Document Type: Review
Times cited : (73)

References (72)
  • 3
    • 0028929738 scopus 로고
    • Health supervision for children with achondroplasia
    • American Academy of Pediatrics Committee on Genetics
    • American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 1995;95(3): 443-451.
    • (1995) Pediatrics. , vol.95 , Issue.3 , pp. 443-451
  • 4
    • 0017240083 scopus 로고
    • Achondroplastic and hypochondroplastic dwarfism
    • Scott CI Jr. Achondroplastic and hypochondroplastic dwarfism. Clin Orthop Relat Res. 1976;(114):18-30.
    • (1976) Clin Orthop Relat Res. , Issue.114 , pp. 18-30
    • Scott Jr., C.I.1
  • 6
    • 51449099401 scopus 로고    scopus 로고
    • The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US
    • Waller DK, Correa A, Vo TM, etal. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008;146A(18):2385-2389.
    • (2008) Am J Med Genet A. , vol.146 A , Issue.18 , pp. 2385-2389
    • Waller, D.K.1    Correa, A.2    Vo, T.M.3
  • 7
    • 33846335205 scopus 로고    scopus 로고
    • Advances in understanding etiology of achondroplasia and review of management
    • Carter EM, Davis JG, Raggio CL. Advances in understanding etiology of achondroplasia and review of management. Curr Opin Pediatr. 2007;19(1):32-37.
    • (2007) Curr Opin Pediatr. , vol.19 , Issue.1 , pp. 32-37
    • Carter, E.M.1    Davis, J.G.2    Raggio, C.L.3
  • 8
    • 33644620626 scopus 로고    scopus 로고
    • Health supervision for children with achondroplasia
    • American Academy of Pediatrics Committee on Genetics
    • Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005;116(3):771-783.
    • (2005) Pediatrics. , vol.116 , Issue.3 , pp. 771-783
    • Trotter, T.L.1    Hall, J.G.2
  • 9
    • 84856113475 scopus 로고    scopus 로고
    • Clinical management of achondroplasia
    • Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129-134.
    • (2012) Arch Dis Child. , vol.97 , Issue.2 , pp. 129-134
    • Wright, M.J.1    Irving, M.D.2
  • 12
    • 0028957869 scopus 로고
    • Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia
    • Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet. 1995;56(3):732-744.
    • (1995) Am J Hum Genet. , vol.56 , Issue.3 , pp. 732-744
    • Pauli, R.M.1    Horton, V.K.2    Glinski, L.P.3    Reiser, C.A.4
  • 14
    • 37849049936 scopus 로고    scopus 로고
    • Medical and social aspects of the life course for adults with a skeletal dysplasia: A review of current knowledge
    • 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.
    • (2008) Disabil Rehabil. , vol.30 , Issue.1 , pp. 1-12
    • Thompson, S.1    Shakespeare, T.2    Wright, M.J.3
  • 16
    • 1042268137 scopus 로고    scopus 로고
    • Management of disabilities associated with achondroplasia
    • Haga N. Management of disabilities associated with achondroplasia. J Orthop Sci. 2004;9(1):103-107.
    • (2004) J Orthop Sci. , vol.9 , Issue.1 , pp. 103-107
    • Haga, N.1
  • 17
    • 0024347941 scopus 로고
    • Hydrocephalus in achondroplasia: The possible role of intracranial venous hypertension
    • Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg. 1989;71(1):42-48.
    • (1989) J Neurosurg. , vol.71 , Issue.1 , pp. 42-48
    • Steinbok, P.1    Hall, J.2    Flodmark, O.3
  • 18
    • 68949097259 scopus 로고    scopus 로고
    • Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: A retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center
    • Borkhuu B, Nagaraju DK, Chan G, Holmes L Jr, Mackenzie WG. Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. Spine (Phila Pa 1976). 2009;34(16):1699-1705.
    • (2009) Spine (Phila Pa 1976). , vol.34 , Issue.16 , pp. 1699-1705
    • Borkhuu, B.1    Nagaraju, D.K.2    Chan, G.3    Holmes Jr., L.4    McKenzie, W.G.5
  • 19
    • 0024262223 scopus 로고
    • Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children
    • Kopits SE. Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children. Basic Life Sci. 1988;48:241-255.
    • (1988) Basic Life Sci. , vol.48 , pp. 241-255
    • Kopits, S.E.1
  • 20
    • 0035371478 scopus 로고    scopus 로고
    • Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia
    • Reynolds KK, Modaff P, Pauli RM. Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. Am J Med Genet. 2001;101(1):40-45.
    • (2001) Am J Med Genet. , vol.101 , Issue.1 , pp. 40-45
    • Reynolds, K.K.1    Modaff, P.2    Pauli, R.M.3
  • 21
    • 0028960402 scopus 로고
    • Cervicomedullary junction compression in infants with achondroplasia: When to perform neurosurgical decompression
    • Rimoin DL. Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. Am J Hum Genet. 1995;56(4):824-827.
    • (1995) Am J Hum Genet. , vol.56 , Issue.4 , pp. 824-827
    • Rimoin, D.L.1
  • 22
    • 0024059416 scopus 로고
    • Cervicomedullary compression with achondroplasia
    • Wassman ER Jr, Rimoin DL. Cervicomedullary compression with achondroplasia. J Pediatr. 1988;113(2):411.
    • (1988) J Pediatr. , vol.113 , Issue.2 , pp. 411
    • Wassman Jr., E.R.1    Rimoin, D.L.2
  • 23
    • 0019352269 scopus 로고
    • Neurological manifestations of pediatric achondroplasia
    • Yamada H, Nakamura S, Tajima M, Kageyama N. Neurological manifestations of pediatric achondroplasia. J Neurosurg. 1981;54(1): 49-57.
    • (1981) J Neurosurg. , vol.54 , Issue.1 , pp. 49-57
    • Yamada, H.1    Nakamura, S.2    Tajima, M.3    Kageyama, N.4
  • 25
    • 0024253967 scopus 로고
    • Orthopedic aspects of achondroplasia in children
    • Kopits SE. Orthopedic aspects of achondroplasia in children. Basic Life Sci. 1988;48:189-197.
    • (1988) Basic Life Sci. , vol.48 , pp. 189-197
    • Kopits, S.E.1
  • 27
  • 28
    • 84860881565 scopus 로고    scopus 로고
    • Development in children with achondroplasia: A prospective clinical cohort study
    • Ireland PJ, Donaghey S, McGill J, etal. Development in children with achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol. 2012;54(6):532-537.
    • (2012) Dev Med Child Neurol. , vol.54 , Issue.6 , pp. 532-537
    • Ireland, P.J.1    Donaghey, S.2    McGill, J.3
  • 29
    • 80052517344 scopus 로고    scopus 로고
    • Functional performance in young Australian children with achondroplasia
    • Ireland PJ, McGill J, Zankl A, etal. Functional performance in young Australian children with achondroplasia. Dev Med Child Neurol. 2011;53(10):944-950.
    • (2011) Dev Med Child Neurol. , vol.53 , Issue.10 , pp. 944-950
    • Ireland, P.J.1    McGill, J.2    Zankl, A.3
  • 30
    • 0036205240 scopus 로고    scopus 로고
    • Observations on the cause of bowlegs in achondroplasia
    • Stanley G, McLoughlin S, Beals RK. Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 2002;22(1):112-116.
    • (2002) J Pediatr Orthop. , vol.22 , Issue.1 , pp. 112-116
    • Stanley, G.1    McLoughlin, S.2    Beals, R.K.3
  • 32
    • 27244443339 scopus 로고    scopus 로고
    • Surgical correction of bowlegs in achondroplasia
    • Beals RK, Stanley G. Surgical correction of bowlegs in achondroplasia. J Pediatr Orthop B. 2005;14(4):245-249.
    • (2005) J Pediatr Orthop B. , vol.14 , Issue.4 , pp. 245-249
    • Beals, R.K.1    Stanley, G.2
  • 33
    • 85056055410 scopus 로고    scopus 로고
    • Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia
    • Kaissi AA, Farr S, Ganger R, Hofstaetter JG, Klaushofer K, Grill F. Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. Open Orthop J. 2013;7:33-39.
    • (2013) Open Orthop J. , vol.7 , pp. 33-39
    • Kaissi, A.A.1    Farr, S.2    Ganger, R.3    Hofstaetter, J.G.4    Klaushofer, K.5    Grill, F.6
  • 34
    • 0024229788 scopus 로고
    • Treatment of kyphosis and lumbar stenosis in achondroplasia
    • Lonstein JE. Treatment of kyphosis and lumbar stenosis in achondroplasia. Basic Life Sci. 1988;48:283-292.
    • (1988) Basic Life Sci. , vol.48 , pp. 283-292
    • Lonstein, J.E.1
  • 36
    • 33645929769 scopus 로고    scopus 로고
    • Thoracolumbar spinal deformity in achondroplasia
    • Misra SN, Morgan HW. Thoracolumbar spinal deformity in achondroplasia. Neurosurg Focus. 2003;14(1):e4.
    • (2003) Neurosurg Focus. , vol.14 , Issue.1
    • Misra, S.N.1    Morgan, H.W.2
  • 37
    • 0014864649 scopus 로고
    • Orthopaedic aspects of achondroplasia
    • Bailey JA 2nd. Orthopaedic aspects of achondroplasia. J Bone Joint Surg Am. 1970;52(7):1285-1301.
    • (1970) J Bone Joint Surg Am. , vol.52 , Issue.7 , pp. 1285-1301
    • Bailey II, J.A.1
  • 38
    • 0024256944 scopus 로고
    • The natural history of achondroplasia
    • Hall JG. The natural history of achondroplasia. Basic Life Sci. 1988;48: 3-9.
    • (1988) Basic Life Sci. , vol.48 , pp. 3-9
    • Hall, J.G.1
  • 39
    • 0023235613 scopus 로고
    • Achondroplasia: Effectiveness of an orthosis in reducing deformity of the spine
    • Siebens AA, Hungerford DS, Kirby NA. Achondroplasia: effectiveness of an orthosis in reducing deformity of the spine. Arch Phys Med Rehabil. 1987;68(6):384-388.
    • (1987) Arch Phys Med Rehabil. , vol.68 , Issue.6 , pp. 384-388
    • Siebens, A.A.1    Hungerford, D.S.2    Kirby, N.A.3
  • 40
    • 0023797232 scopus 로고
    • Kyphosis in achondroplasia: Probably preventable
    • Hall JG. Kyphosis in achondroplasia: probably preventable. J Pediatr. 1988;112(1):166-167.
    • (1988) J Pediatr. , vol.112 , Issue.1 , pp. 166-167
    • Hall, J.G.1
  • 41
    • 0024262432 scopus 로고
    • Orthotic correction of sitting abnormality in achondroplastic children
    • Siebens AA, Kirby N, Hungerford D. Orthotic correction of sitting abnormality in achondroplastic children. Basic Life Sci. 1988;48:313-317.
    • (1988) Basic Life Sci. , vol.48 , pp. 313-317
    • Siebens, A.A.1    Kirby, N.2    Hungerford, D.3
  • 43
    • 49449091118 scopus 로고    scopus 로고
    • Age-appropriate body mass index in children with achondroplasia: Interpretation in relation to indexes of height
    • Hoover-Fong JE, Schulze KJ, McGready J, Barnes H, Scott CI. Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. Am J Clin Nutr. 2008;88(2): 364-371.
    • (2008) Am J Clin Nutr. , vol.88 , Issue.2 , pp. 364-371
    • Hoover-Fong, J.E.1    Schulze, K.J.2    McGready, J.3    Barnes, H.4    Scott, C.I.5
  • 44
    • 0030010517 scopus 로고    scopus 로고
    • Standard weight for height curves in achondroplasia
    • Hunter AG, Hecht JT, Scott CI Jr. Standard weight for height curves in achondroplasia. Am J Med Genet. 1996;62(3):255-261.
    • (1996) Am J Med Genet. , vol.62 , Issue.3 , pp. 255-261
    • Hunter, A.G.1    Hecht, J.T.2    Scott Jr., C.I.3
  • 47
    • 0021362896 scopus 로고
    • Apnea and sudden unexpected death in infants with achondroplasia
    • Pauli RM, Scott CI, Wassman ER Jr, etal. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr. 1984;104(3): 342-348.
    • (1984) J Pediatr. , vol.104 , Issue.3 , pp. 342-348
    • Pauli, R.M.1    Scott, C.I.2    Wassman Jr., E.R.3
  • 48
    • 0023262012 scopus 로고
    • Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction
    • Wang H, Rosenbaum AE, Reid CS, Zinreich SJ, Pyeritz RE. Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. Radiology. 1987;164(2):515-519.
    • (1987) Radiology. , vol.164 , Issue.2 , pp. 515-519
    • Wang, H.1    Rosenbaum, A.E.2    Reid, C.S.3    Zinreich, S.J.4    Pyeritz, R.E.5
  • 49
    • 0344614666 scopus 로고    scopus 로고
    • Achondroplasia and cervicomedullary compression: Prospective evaluation and surgical treatment
    • Keiper GL Jr, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 1999;31(2):78-83.
    • (1999) Pediatr Neurosurg. , vol.31 , Issue.2 , pp. 78-83
    • Keiper Jr., G.L.1    Koch, B.2    Crone, K.R.3
  • 52
    • 9644295972 scopus 로고    scopus 로고
    • Living with achondroplasia: Quality of life evaluation following cervico-medullary decompression
    • Ho NC, Guarnieri M, Brant LJ, etal. Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. Am J Med Genet A. 2004;131(2):163-167.
    • (2004) Am J Med Genet A. , vol.131 , Issue.2 , pp. 163-167
    • Ho, N.C.1    Guarnieri, M.2    Brant, L.J.3
  • 55
    • 0031158405 scopus 로고    scopus 로고
    • Biophysical bases for delayed and aberrant motor development in young children with achondroplasia
    • Fowler ES, Glinski LP, Reiser CA, Horton VK, Pauli RM. Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. J Dev Behav Pediatr. 1997;18(3):143-150.
    • (1997) J Dev Behav Pediatr. , vol.18 , Issue.3 , pp. 143-150
    • Fowler, E.S.1    Glinski, L.P.2    Reiser, C.A.3    Horton, V.K.4    Pauli, R.M.5
  • 56
    • 76149145697 scopus 로고    scopus 로고
    • Developmental milestones in infants and young Australasian children with achondroplasia
    • Ireland PJ, Johnson S, Donaghey S, etal. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010;31(1):41-47.
    • (2010) J Dev Behav Pediatr. , vol.31 , Issue.1 , pp. 41-47
    • Ireland, P.J.1    Johnson, S.2    Donaghey, S.3
  • 57
    • 0017360674 scopus 로고
    • Neurological symptoms in achondroplastic dwarfs-surgical treatment
    • Lutter LD, Langer LO. Neurological symptoms in achondroplastic dwarfs-surgical treatment. J Bone Joint Surg Am. 1977;59(1):87-92.
    • (1977) J Bone Joint Surg Am. , vol.59 , Issue.1 , pp. 87-92
    • Lutter, L.D.1    Langer, L.O.2
  • 59
    • 0020537428 scopus 로고
    • Respiratory complications of achondroplasia
    • Stokes DC, Phillips JA, Leonard CO, etal. Respiratory complications of achondroplasia. J Pediatr. 1983;102(4):534-541.
    • (1983) J Pediatr. , vol.102 , Issue.4 , pp. 534-541
    • Stokes, D.C.1    Phillips, J.A.2    Leonard, C.O.3
  • 61
    • 84859399612 scopus 로고    scopus 로고
    • Respiratory events and obstructive sleep apnea in children with achondroplasia: Investigation and treatment outcomes
    • Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K. Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. Sleep Breath. 2011;15(4):755-761.
    • (2011) Sleep Breath. , vol.15 , Issue.4 , pp. 755-761
    • Afsharpaiman, S.1    Sillence, D.O.2    Sheikhvatan, M.3    Ault, J.E.4    Waters, K.5
  • 62
    • 0031880741 scopus 로고    scopus 로고
    • Distinct patterns of respiratory difficulty in young children with achondroplasia: A clinical, sleep, and lung function study
    • Tasker RC, Dundas I, Laverty A, Fletcher M, Lane R, Stocks J. Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child. 1998;79(2): 99-108.
    • (1998) Arch Dis Child. , vol.79 , Issue.2 , pp. 99-108
    • Tasker, R.C.1    Dundas, I.2    Laverty, A.3    Fletcher, M.4    Lane, R.5    Stocks, J.6
  • 63
    • 33845592375 scopus 로고    scopus 로고
    • Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia
    • 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.
    • (2007) J Pediatr. , vol.150 , Issue.1 , pp. 26-30
    • Takken, T.1    van Bergen, M.W.2    Sakkers, R.J.3    Helders, P.J.4    Engelbert, R.H.5
  • 64
    • 33947377083 scopus 로고    scopus 로고
    • Otolaryngologic manifestations of achondroplasia
    • Collins WO, Choi SS. Otolaryngologic manifestations of achondroplasia. Arch Otolaryngol Head Neck Surg. 2007;133(3):237-244.
    • (2007) Arch Otolaryngol Head Neck Surg. , vol.133 , Issue.3 , pp. 237-244
    • Collins, W.O.1    Choi, S.S.2
  • 66
    • 0033978744 scopus 로고    scopus 로고
    • The neurological complications of achondroplasia
    • Gordon N. The neurological complications of achondroplasia. Brain Dev. 2000;22(1):3-7.
    • (2000) Brain Dev. , vol.22 , Issue.1 , pp. 3-7
    • Gordon, N.1
  • 67
    • 84861201357 scopus 로고    scopus 로고
    • Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years
    • Ireland PJ, Johnson S, Donaghey S, etal. Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. J Paediatr Child Health. 2012;48(5):443-449.
    • (2012) J Paediatr Child Health. , vol.48 , Issue.5 , pp. 443-449
    • Ireland, P.J.1    Johnson, S.2    Donaghey, S.3
  • 71
    • 0025060256 scopus 로고
    • Comparison of education and occupation of adults with achondroplasia with same-sex sibs
    • Roizen N, Ekwo E, Gosselink C. Comparison of education and occupation of adults with achondroplasia with same-sex sibs. Am J Med Genet. 1990;35(2):257-260.
    • (1990) Am J Med Genet. , vol.35 , Issue.2 , pp. 257-260
    • Roizen, N.1    Ekwo, E.2    Gosselink, C.3
  • 72
    • 84870858575 scopus 로고    scopus 로고
    • Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia
    • Lorget F, Kaci N, Peng J, etal. Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. Am J Hum Genet. 2012;91(6):1108-1114.
    • (2012) Am J Hum Genet. , vol.91 , Issue.6 , pp. 1108-1114
    • Lorget, F.1    Kaci, N.2    Peng, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.