메뉴 건너뛰기




Volumn 19, Issue 1, 2007, Pages 32-37

Advances in understanding etiology of achondroplasia and review of management

Author keywords

Achondroplasia; Dwarf; Fibroblast growth factor receptor 3; Skeletal dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3; GROWTH HORMONE;

EID: 33846335205     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e328013e3d9     Document Type: Review
Times cited : (38)

References (54)
  • 2
    • 0022493547 scopus 로고
    • The birth prevalence rates for the skeletal dysplasias
    • Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986; 23:328-332.
    • (1986) J Med Genet , vol.23 , pp. 328-332
    • Orioli, I.M.1    Castilla, E.E.2    Barbosa-Neto, J.G.3
  • 3
    • 0028365599 scopus 로고
    • A gene for achondroplasia-hypochondroplasia maps to chromosome 4p
    • Le Merrer M, Rousseau F, Legeai-Mallet L, et al. A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. Nat Genet 1994; 6:318-321.
    • (1994) Nat Genet , vol.6 , pp. 318-321
    • Le Merrer, M.1    Rousseau, F.2    Legeai-Mallet, L.3
  • 4
    • 0028339047 scopus 로고
    • The gene for achondroplasia maps to the telomeric region of chromosome 4p
    • Velinov M, Slaugenhaupt SA, Stiolov I, et al. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet 1994; 6:314-317.
    • (1994) Nat Genet , vol.6 , pp. 314-317
    • Velinov, M.1    Slaugenhaupt, S.A.2    Stiolov, I.3
  • 5
    • 0028300064 scopus 로고
    • Localization of the achondroplasia gene to the distal 2.5Mb of human chromosome 4p
    • Francomano CA, Ortiz de Luna RI, Hefferon TW, et al. Localization of the achondroplasia gene to the distal 2.5Mb of human chromosome 4p. Hum Mol Genet 1994; 3:787-792.
    • (1994) Hum Mol Genet , vol.3 , pp. 787-792
    • Francomano, C.A.1    Ortiz de Luna, R.I.2    Hefferon, T.W.3
  • 6
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78:335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.Z.3
  • 7
    • 0028093135 scopus 로고
    • Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
    • Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 1994; 371:252-254.
    • (1994) Nature , vol.371 , pp. 252-254
    • Rousseau, F.1    Bonaventure, J.2    Legeai-Mallet, L.3
  • 8
    • 0028890851 scopus 로고
    • Achondroplasia is defined by recurrent G380R mutations of FGFR3
    • Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet 1995; 56:368-373.
    • (1995) Am J Hum Genet , vol.56 , pp. 368-373
    • Bellus, G.A.1    Hefferon, T.W.2    Ortiz de Luna, R.I.3
  • 9
    • 0028928630 scopus 로고
    • A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
    • Superti-Furga A, Eich G, Bucher HU, et al. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr 1995; 154:215-219.
    • (1995) Eur J Pediatr , vol.154 , pp. 215-219
    • Superti-Furga, A.1    Eich, G.2    Bucher, H.U.3
  • 10
    • 0028793472 scopus 로고
    • Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
    • Meyers GA, Orlow SJ, Munro IR, et al. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995; 11:462-464.
    • (1995) Nat Genet , vol.11 , pp. 462-464
    • Meyers, G.A.1    Orlow, S.J.2    Munro, I.R.3
  • 11
    • 0034464005 scopus 로고    scopus 로고
    • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
    • Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000; 21:23-39.
    • (2000) Endocr Rev , vol.21 , pp. 23-39
    • Vajo, Z.1    Francomano, C.A.2    Wilkin, D.J.3
  • 12
    • 15844368097 scopus 로고    scopus 로고
    • Receptor specificity of the fibroblast growth factor family
    • Ornitz DM, Xu J, Colvin JS, et al. Receptor specificity of the fibroblast growth factor family. J Biol Chem 1996; 271:15292-15297.
    • (1996) J Biol Chem , vol.271 , pp. 15292-15297
    • Ornitz, D.M.1    Xu, J.2    Colvin, J.S.3
  • 13
    • 0026020296 scopus 로고
    • Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3
    • Keegan K, Johnson DE, Williams LT, Hayman MJ. Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3. Proc Natl Acad Sci U S A 1991; 88:1095-1099.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 1095-1099
    • Keegan, K.1    Johnson, D.E.2    Williams, L.T.3    Hayman, M.J.4
  • 14
    • 0026570852 scopus 로고
    • Two FGF receptor genes are differentially expressed in epithelial and mesenchymal tissues during limb formation and organogenesis in the mouse
    • Peters K, Werner S, Chen G, Williams LT. Two FGF receptor genes are differentially expressed in epithelial and mesenchymal tissues during limb formation and organogenesis in the mouse. Development 1992; 114:233-243.
    • (1992) Development , vol.114 , pp. 233-243
    • Peters, K.1    Werner, S.2    Chen, G.3    Williams, L.T.4
  • 15
    • 0029917507 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 is a negative regulator of bone growth
    • Deng C, Wynshaw-Boris A, Zhou F, et al. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell 1996; 84:911-921.
    • (1996) Cell , vol.84 , pp. 911-921
    • Deng, C.1    Wynshaw-Boris, A.2    Zhou, F.3
  • 16
    • 0030941036 scopus 로고    scopus 로고
    • Activation of FGF receptors by mutations in the transmembrane domain
    • Li Y, Mangasarian K, Mansukhani A, Basilico C. Activation of FGF receptors by mutations in the transmembrane domain. Oncogene 1997; 14:1397-1406.
    • (1997) Oncogene , vol.14 , pp. 1397-1406
    • Li, Y.1    Mangasarian, K.2    Mansukhani, A.3    Basilico, C.4
  • 17
    • 0030064347 scopus 로고    scopus 로고
    • Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia
    • 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.
    • (1996) EMBO J , vol.15 , pp. 520-527
    • Webster, M.K.1    Donoghue, D.J.2
  • 18
    • 0345743700 scopus 로고    scopus 로고
    • Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia
    • Cho JY, Guo C, Torello M, et al. Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. Proc Natl Acad Sci U S A 2004; 101:609-614.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 609-614
    • Cho, J.Y.1    Guo, C.2    Torello, M.3
  • 19
    • 33745476745 scopus 로고    scopus 로고
    • Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm
    • Wyrobek AJ, Eskenazi B, Young S, et al. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm. Proc Natl Acad Sci U S A 2006; 103:9601-9606.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 9601-9606
    • Wyrobek, A.J.1    Eskenazi, B.2    Young, S.3
  • 20
    • 0032231407 scopus 로고    scopus 로고
    • Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
    • Wilkin DJ, Szabo JK, Cameron R, et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet 1998; 63:711-716.
    • (1998) Am J Hum Genet , vol.63 , pp. 711-716
    • Wilkin, D.J.1    Szabo, J.K.2    Cameron, R.3
  • 22
    • 0034737054 scopus 로고    scopus 로고
    • Recurrence risk for sibs of children with 'sporadic' achondroplasia
    • Mettler G, Fraser FC. Recurrence risk for sibs of children with 'sporadic' achondroplasia. Am J Med Genet 2000; 90:250-251.
    • (2000) Am J Med Genet , vol.90 , pp. 250-251
    • Mettler, G.1    Fraser, F.C.2
  • 23
    • 8944258923 scopus 로고    scopus 로고
    • Errors in the prenatal diagnosis of children with achondroplasia
    • Modaff P, Horton VK, Pauli RM. Errors in the prenatal diagnosis of children with achondroplasia. Prenat Diagn 1996; 16:525-530.
    • (1996) Prenat Diagn , vol.16 , pp. 525-530
    • Modaff, P.1    Horton, V.K.2    Pauli, R.M.3
  • 24
    • 0030010517 scopus 로고    scopus 로고
    • Standard weight for height curves in achondroplasia
    • Hunter AG, Hecht JT, Scott CI. Standard weight for height curves in achondroplasia. Am J Med Genet 1996; 62:255-261.
    • (1996) Am J Med Genet , vol.62 , pp. 255-261
    • Hunter, A.G.1    Hecht, J.T.2    Scott, C.I.3
  • 25
    • 0017807899 scopus 로고
    • Standard growth curves for achondroplasia
    • Horton WA, Rotter JI, Rimoin DL, et al. Standard growth curves for achondroplasia. J Pediatr 1978; 93:435-438.
    • (1978) J Pediatr , vol.93 , pp. 435-438
    • Horton, W.A.1    Rotter, J.I.2    Rimoin, D.L.3
  • 27
    • 0031047041 scopus 로고    scopus 로고
    • Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective
    • Lachman RS. Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet 1997; 69:33-43.
    • (1997) Am J Med Genet , vol.69 , pp. 33-43
    • Lachman, R.S.1
  • 28
    • 31544470052 scopus 로고    scopus 로고
    • Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology
    • Onodera K, Niikuni N, Chigono T, et al. Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. Int J Pediatr Otorhinolaryngol 2006; 70:453-461.
    • (2006) Int J Pediatr Otorhinolaryngol , vol.70 , pp. 453-461
    • Onodera, K.1    Niikuni, N.2    Chigono, T.3
  • 29
    • 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; 56:732-744.
    • (1995) Am J Hum Genet , vol.56 , pp. 732-744
    • Pauli, R.M.1    Horton, V.K.2    Glinski, L.P.3    Reiser, C.A.4
  • 30
    • 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; 101:40-45.
    • (2001) Am J Med Genet , vol.101 , pp. 40-45
    • Reynolds, K.K.1    Modaff, P.2    Pauli, R.M.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 Orthopaed B 2005; 14:245-249.
    • (2005) J Pediatr Orthopaed B , vol.14 , pp. 245-249
    • Beals, R.K.1    Stanley, G.2
  • 33
    • 0034909417 scopus 로고    scopus 로고
    • Limb lengthening in short stature patients
    • Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthopaed B 2001; 10:238-247.
    • (2001) J Pediatr Orthopaed B , vol.10 , pp. 238-247
    • Aldegheri, R.1    Dall'Oca, C.2
  • 34
    • 0031414798 scopus 로고    scopus 로고
    • Prevention of fixed, angular kyphosis in achondroplasia
    • Pauli RM, Breed A, Horton VK, et al. Prevention of fixed, angular kyphosis in achondroplasia. J Pediatr Orthopaed 1997; 17:726-733.
    • (1997) J Pediatr Orthopaed , vol.17 , pp. 726-733
    • Pauli, R.M.1    Breed, A.2    Horton, V.K.3
  • 35
    • 33645929769 scopus 로고    scopus 로고
    • Thoracolumbar spinal deformity in achondroplasia
    • Misra SN, Morgan HW. Thoracolumbar spinal deformity in achondroplasia. Neurosurg Focus 2003; 14:e1-e4.
    • (2003) Neurosurg Focus , vol.14
    • Misra, S.N.1    Morgan, H.W.2
  • 36
    • 33745540840 scopus 로고    scopus 로고
    • Surgical treatment of achondroplasia with thoracolumbar kyphosis and spinal stenosis: A case report
    • Liao JC, Chen WJ, Lai PL, Chen LH. Surgical treatment of achondroplasia with thoracolumbar kyphosis and spinal stenosis: a case report. Acta Orthopaed 2006; 77:541-544.
    • (2006) Acta Orthopaed , vol.77 , pp. 541-544
    • Liao, J.C.1    Chen, W.J.2    Lai, P.L.3    Chen, L.H.4
  • 37
    • 4344627336 scopus 로고    scopus 로고
    • Spinal fusion for kyphosis in achondroplasia
    • Ain MC, Shirley ED. Spinal fusion for kyphosis in achondroplasia. J Pediatr Orthopaed 2004; 24:541-545.
    • (2004) J Pediatr Orthopaed , vol.24 , pp. 541-545
    • Ain, M.C.1    Shirley, E.D.2
  • 38
    • 13444304314 scopus 로고    scopus 로고
    • Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia
    • Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine 2004; 29:2075-2080.
    • (2004) Spine , vol.29 , pp. 2075-2080
    • Ain, M.C.1    Browne, J.A.2
  • 40
    • 33846331085 scopus 로고    scopus 로고
    • Horton WA, Hecht JT. The chondrodysplasias. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. New York: Wiley-Liss. © 1993; pp. 641-675.
    • Horton WA, Hecht JT. The chondrodysplasias. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. New York: Wiley-Liss. © 1993; pp. 641-675.
  • 41
    • 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; 95:443-451.
    • (1995) Pediatrics , vol.95 , pp. 443-451
  • 42
    • 33644620626 scopus 로고    scopus 로고
    • Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005; 116:771-783. An essential paper reviewing features and anticipatory management of achondroplasia broken down by age group. Includes growth charts appropriate for use in evaluating children with achondroplasia (from [23,24]). Available online at the American Academy of Pediatrics webpage: aappolicy.aappublications. org/cgi/reprint/pediatrics;116/3/771.pdf.
    • Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005; 116:771-783. An essential paper reviewing features and anticipatory management of achondroplasia broken down by age group. Includes growth charts appropriate for use in evaluating children with achondroplasia (from [23,24]). Available online at the American Academy of Pediatrics webpage: aappolicy.aappublications. org/cgi/reprint/pediatrics;116/3/771.pdf.
  • 43
    • 0037861955 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia: Genetic short limbed dwarfism
    • Aviezer D, Golembo M, Yayon A. Fibroblast growth factor receptor-3 as a therapeutic target for achondroplasia: genetic short limbed dwarfism. Curr Drug Targets 2003; 4:353-365.
    • (2003) Curr Drug Targets , vol.4 , pp. 353-365
    • Aviezer, D.1    Golembo, M.2    Yayon, A.3
  • 44
    • 11144358656 scopus 로고    scopus 로고
    • Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
    • Yasoda A, Komatsu Y, Chusho H, et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med 2004; 10:80-86.
    • (2004) Nat Med , vol.10 , pp. 80-86
    • Yasoda, A.1    Komatsu, Y.2    Chusho, H.3
  • 46
    • 0027300852 scopus 로고
    • Growth hormone (GH) treatment in achondroplasia
    • Yamate T, Kanzaki S, Tanaka H, et al. Growth hormone (GH) treatment in achondroplasia. J Pediatr Endocrinol 1993; 6:45-52.
    • (1993) J Pediatr Endocrinol , vol.6 , pp. 45-52
    • Yamate, T.1    Kanzaki, S.2    Tanaka, H.3
  • 47
    • 0033823221 scopus 로고    scopus 로고
    • Growth hormone therapy in achondroplasia
    • Seino Y, Yamanaka Y, Shinohara M, et al. Growth hormone therapy in achondroplasia. Horm Res 2000; 53 (Suppl 3):53-56.
    • (2000) Horm Res , vol.53 , Issue.SUPPL. 3 , pp. 53-56
    • Seino, Y.1    Yamanaka, Y.2    Shinohara, M.3
  • 48
    • 0030020454 scopus 로고    scopus 로고
    • Human growth hormone treatment in prepubertal children with achondroplasia
    • Weber G, Prinster C, Meneghel M, et al. Human growth hormone treatment in prepubertal children with achondroplasia. Am J Med Genet 1996; 61:396-400.
    • (1996) Am J Med Genet , vol.61 , pp. 396-400
    • Weber, G.1    Prinster, C.2    Meneghel, M.3
  • 49
    • 0029794956 scopus 로고    scopus 로고
    • Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia
    • Shohat M, Tick D, Barakat S, et al. Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. J Clin Endocrinol Metab 1996; 81:4033-4037.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4033-4037
    • Shohat, M.1    Tick, D.2    Barakat, S.3
  • 50
    • 0029868480 scopus 로고    scopus 로고
    • Response to growth hormone in children with chondrodysplasia
    • Key LL, Gross AJ. Response to growth hormone in children with chondrodysplasia. J Pediatr 1996; 128 (5 Pt 2):S14-S17.
    • (1996) J Pediatr , vol.128 , Issue.5 PART 2
    • Key, L.L.1    Gross, A.J.2
  • 51
    • 0030928105 scopus 로고    scopus 로고
    • Growth and growth hormone therapy in children with achondroplasia: A two-year experience
    • Stamoyannou L, Karachaliou F, Neou P, et al. Growth and growth hormone therapy in children with achondroplasia: a two-year experience. Am J Med Genet 1997; 72:71-76.
    • (1997) Am J Med Genet , vol.72 , pp. 71-76
    • Stamoyannou, L.1    Karachaliou, F.2    Neou, P.3
  • 52
    • 0037296350 scopus 로고    scopus 로고
    • The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia
    • Tanaka N, Katsumata N, Jorikawa R, Tanaka T. The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J 2003; 50:69-75.
    • (2003) Endocr J , vol.50 , pp. 69-75
    • Tanaka, N.1    Katsumata, N.2    Jorikawa, R.3    Tanaka, T.4
  • 53
    • 27144547212 scopus 로고    scopus 로고
    • Growth hormone treatment in 35 prepubertal children with achondroplasia: A five-year dose-response trial
    • Hertel NT, Eklöf O, Ivarsson S, et al. Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. Acta Pædiatr 2005; 94:1402-1410.
    • (2005) Acta Pædiatr , vol.94 , pp. 1402-1410
    • Hertel, N.T.1    Eklöf, O.2    Ivarsson, S.3
  • 54
    • 0032822419 scopus 로고    scopus 로고
    • Treatment of achondroplasia with growth hormone: Six years of experience
    • Ramaswami U, Rumsby G, Spoudeas HA, et al. Treatment of achondroplasia with growth hormone: six years of experience. Pediatr Res 1999; 46:435-439.
    • (1999) Pediatr Res , vol.46 , pp. 435-439
    • Ramaswami, U.1    Rumsby, G.2    Spoudeas, H.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.