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Volumn 116, Issue 3, 2005, Pages 771-783

Health supervision for children with achondroplasia

Author keywords

Achondroplasia; Children; Health supervision; Short stature

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

EID: 33644620626     PISSN: 00314005     EISSN: 00314005     Source Type: Journal    
DOI: 10.1542/peds.2005-1440     Document Type: Article
Times cited : (175)

References (51)
  • 1
    • 0028929738 scopus 로고
    • Health supervision for children with achondroplasia
    • 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
  • 2
    • 0030773251 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 3 and the human chondrodysplasias
    • Horton WA. Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr Opin Pediatr. 1997;9:437-442
    • (1997) Curr Opin Pediatr , vol.9 , pp. 437-442
    • Horton, W.A.1
  • 3
    • 33748339883 scopus 로고    scopus 로고
    • Achondroplasia
    • Cassidy SB, Allanson JE, eds. New York, NY: Wiley-Liss
    • Pauli RM. Achondroplasia. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York, NY: Wiley-Liss; 2001:9-32
    • (2001) Management of Genetic Syndromes , pp. 9-32
    • Pauli, R.M.1
  • 4
    • 0028803676 scopus 로고
    • Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta
    • Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet. 1995;59:209-217
    • (1995) Am J Med Genet , vol.59 , pp. 209-217
    • Orioli, I.M.1    Castilla, E.E.2    Scarano, G.3    Mastroiacovo, P.4
  • 5
    • 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
  • 6
    • 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
  • 7
    • 0028890851 scopus 로고
    • Achondroplasia is defined by recurrent G380R mutations in FGFR3
    • Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations in 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
  • 10
    • 0025376198 scopus 로고
    • Neurologic morbidity associated with achondroplasia
    • Hecht JT, Butler IJ. Neurologic morbidity associated with achondroplasia. J Child Neurol. 1990;5:84-97
    • (1990) J Child Neurol , vol.5 , pp. 84-97
    • Hecht, J.T.1    Butler, I.J.2
  • 11
    • 0023472545 scopus 로고
    • Thoracolumbosacral laminectomy in achondroplasia: Long-term results in 22 patients
    • 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
    • (1987) Am J Med Genet , vol.28 , pp. 433-444
    • Pyeritz, R.E.1    Sack Jr., G.H.2    Udvarhelyi, G.B.3
  • 13
    • 0031158405 scopus 로고    scopus 로고
    • Biophysical basis for delayed and aberrant motor development in young children with achondroplasia
    • Fowler ES, Glinski LP, Reiser CA, Horton VK, Pauli RM. Biophysical basis for delayed and aberrant motor development in young children with achondroplasia. J Dev Behav Pediatr. 1997;18:143-150
    • (1997) J Dev Behav Pediatr , vol.18 , pp. 143-150
    • Fowler, E.S.1    Glinski, L.P.2    Reiser, C.A.3    Horton, V.K.4    Pauli, R.M.5
  • 14
    • 0019011118 scopus 로고
    • Surgical intervention in achondroplasia. Correction of bow-leg deformity in achondroplasia
    • Kopits SE. Surgical intervention in achondroplasia. Correction of bow-leg deformity in achondroplasia. Johns Hopkins Med J. 1980;146:206-209
    • (1980) Johns Hopkins Med J , vol.146 , pp. 206-209
    • Kopits, S.E.1
  • 15
    • 0033574383 scopus 로고    scopus 로고
    • Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia
    • Thompson NM, Hecht JT, Bohan TP, et al. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet. 1999;88:145-153
    • (1999) Am J Med Genet , vol.88 , pp. 145-153
    • Thompson, N.M.1    Hecht, J.T.2    Bohan, T.P.3
  • 16
    • 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
  • 17
    • 33748342436 scopus 로고    scopus 로고
    • Little People of America. Adopting a dwarf child. Available at: http://lpaonline.org/lpa_adoptions.html. Accessed July 16, 2003
    • Adopting a Dwarf Child
  • 18
    • 0022657486 scopus 로고
    • Obstetrics and gynecologic problems in women with chondrodystrophies
    • Allanson JE, Hall JG. Obstetrics and gynecologic problems in women with chondrodystrophies. Obstet Gynecol. 1986;67:74-78
    • (1986) Obstet Gynecol , vol.67 , pp. 74-78
    • Allanson, J.E.1    Hall, J.G.2
  • 19
    • 0042695935 scopus 로고    scopus 로고
    • Double heterozygosity and compound heterozygosity for disorders affecting bone growth
    • Flynn M, Pauli RM. Double heterozygosity and compound heterozygosity for disorders affecting bone growth. Am J Med Genet. 2003;121A:193-208
    • (2003) Am J Med Genet , vol.121 A , pp. 193-208
    • Flynn, M.1    Pauli, R.M.2
  • 20
    • 0021012739 scopus 로고
    • Homozygous achondroplasia with survival beyond infancy
    • Pauli RM, Conroy MM, Langer LO Jr, et al. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet. 1983;16:459-473
    • (1983) Am J Med Genet , vol.16 , pp. 459-473
    • Pauli, R.M.1    Conroy, M.M.2    Langer Jr., L.O.3
  • 21
    • 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
    • 0034533165 scopus 로고    scopus 로고
    • Achondroplasia with the FGFR3 1138g->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father
    • Sobetzko D, Braga S, Rudeberg A, Superti-Furga A. Achondroplasia with the FGFR3 1138g->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. J Med Genet. 2000;37:958-959
    • (2000) J Med Genet , vol.37 , pp. 958-959
    • Sobetzko, D.1    Braga, S.2    Rudeberg, A.3    Superti-Furga, A.4
  • 24
    • 0035111351 scopus 로고    scopus 로고
    • Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton)
    • Kanaka-Gantenbein C. Present status of the use of growth hormone in short children with bone diseases (diseases of the skeleton). J Pediatr Endocrinol Metab. 2001;14:17-26
    • (2001) J Pediatr Endocrinol Metab , vol.14 , pp. 17-26
    • Kanaka-Gantenbein, C.1
  • 25
    • 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.3 SUPPL. , pp. 53-56
    • Seino, Y.1    Yamanaka, Y.2    Shinohara, M.3
  • 26
    • 0025191420 scopus 로고
    • Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia
    • Vilarrubias JM, Ginebreda I, Jimeno E. Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. Clin Orthop. 1990;250:143-149
    • (1990) Clin Orthop , vol.250 , pp. 143-149
    • Vilarrubias, J.M.1    Ginebreda, I.2    Jimeno, E.3
  • 27
    • 0034909417 scopus 로고    scopus 로고
    • Limb lengthening in short stature patients
    • Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B. 2001;10:238-247
    • (2001) J Pediatr Orthop B , vol.10 , pp. 238-247
    • Aldegheri, R.1    Dall'Oca, C.2
  • 28
    • 0021362896 scopus 로고
    • Apnea and sudden unexpected death in infants with achondroplasia
    • Pauli RM, Scott CI, Wassman ER Jr, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr. 1984;104:342-348
    • (1984) J Pediatr , vol.104 , pp. 342-348
    • Pauli, R.M.1    Scott, C.I.2    Wassman Jr., E.R.3
  • 29
    • 0023156987 scopus 로고
    • Cervicomedullary compression in young patients with achondroplasia: Value of comprehensive neurologic and respiratory evaluation
    • Reid CS, Pyeritz RE, Kopits SE, et al. Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr. 1987;110:522-530
    • (1987) J Pediatr , vol.110 , pp. 522-530
    • Reid, C.S.1    Pyeritz, R.E.2    Kopits, S.E.3
  • 30
  • 31
    • 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
  • 32
    • 0035170804 scopus 로고    scopus 로고
    • Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: Impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction
    • Bruhl K, Stoeter P, Wietek B, et al. Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction. Eur J Pediatr. 2001;160:10-20
    • (2001) Eur J Pediatr , vol.160 , pp. 10-20
    • Bruhl, K.1    Stoeter, P.2    Wietek, B.3
  • 33
    • 0033796265 scopus 로고    scopus 로고
    • The use of gated cine phase contrast and MR venography in achondroplasia
    • Rollins N, Booth T, Shapiro K. The use of gated cine phase contrast and MR venography in achondroplasia. Childs Nerv Syst. 2000;16:569-575; discussion 575-577
    • (2000) Childs Nerv Syst , vol.16 , pp. 569-575
    • Rollins, N.1    Booth, T.2    Shapiro, K.3
  • 34
    • 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;31:78-83
    • (1999) Pediatr Neurosurg , vol.31 , pp. 78-83
    • Keiper Jr., G.L.1    Koch, B.2    Crone, K.R.3
  • 35
    • 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;71:42-48
    • (1989) J Neurosurg , vol.71 , pp. 42-48
    • Steinbok, P.1    Hall, J.2    Flodmark, O.3
  • 36
    • 0020537428 scopus 로고
    • Respiratory complications of achondroplasia
    • Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr. 1983;102:534-541
    • (1983) J Pediatr , vol.102 , pp. 534-541
    • Stokes, D.C.1    Phillips, J.A.2    Leonard, C.O.3
  • 37
    • 0023797232 scopus 로고
    • Kyphosis in achondroplasia: Probably preventable
    • Hall JG. Kyphosis in achondroplasia: probably preventable. J Pediatr. 1988;112:166-167
    • (1988) J Pediatr , vol.112 , pp. 166-167
    • Hall, J.G.1
  • 40
    • 0031690278 scopus 로고    scopus 로고
    • Epidural anaesthesia for caesarean section in an achondroplastic dwarf
    • Morrow MJ, Black IH. Epidural anaesthesia for caesarean section in an achondroplastic dwarf. Br J Anaesth. 1998;81:619-621
    • (1998) Br J Anaesth , vol.81 , pp. 619-621
    • Morrow, M.J.1    Black, I.H.2
  • 42
    • 0028799024 scopus 로고
    • Treatment of obstructive sleep apnea in achondroplasia: Evaluation of sleep, breathing, and somatosensory-evoked potentials
    • Waters KA, Everett F, Sillence DO, Fagan ER, Sullivan CE. Treatment of obstructive sleep apnea in achondroplasia: Evaluation of sleep, breathing, and somatosensory-evoked potentials. Am J Med Genet. 1995;59:460-466
    • (1995) Am J Med Genet , vol.59 , pp. 460-466
    • Waters, K.A.1    Everett, F.2    Sillence, D.O.3    Fagan, E.R.4    Sullivan, C.E.5
  • 43
    • 0030376140 scopus 로고    scopus 로고
    • Sleep and upper airway obstruction in children with achondroplasia
    • Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr. 1996;129:743-749
    • (1996) J Pediatr , vol.129 , pp. 743-749
    • Zucconi, M.1    Weber, G.2    Castronovo, V.3
  • 45
    • 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;79:99-108
    • (1998) Arch Dis Child , vol.79 , pp. 99-108
    • Tasker, R.C.1    Dundas, I.2    Laverty, A.3    Fletcher, M.4    Lane, R.5    Stocks, J.6
  • 46
    • 0036181102 scopus 로고    scopus 로고
    • Selecting and using the most appropriate car safety seats for growing children: Guidelines for counseling parents
    • American Academy of Pediatrics, Committee on Injury, Violence, and Poison Prevention. Selecting and using the most appropriate car safety seats for growing children: guidelines for counseling parents. Pediatrics. 2002;109:550-553
    • (2002) Pediatrics , vol.109 , pp. 550-553
  • 49
    • 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;62:255-261
    • (1996) Am J Med Genet , vol.62 , pp. 255-261
    • Hunter, A.G.1    Hecht, J.T.2    Scott Jr., C.I.3
  • 50
    • 33748362296 scopus 로고    scopus 로고
    • Washington, DC: National Highway Traffic Safety Administration
    • National Highway Traffic Safety Administration. Adapting Motor Vehicles for People With Disabilities. Washington, DC: National Highway Traffic Safety Administration; 2000. Available at: www.nhtsa.dot.gov/cars/rules/adaptive/ brochure/brochure.html. Accessed February 3, 2004
    • (2000) Adapting Motor Vehicles for People with Disabilities
  • 51


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