{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:23:44Z","timestamp":1792193024379,"version":"4.4.0"},"reference-count":51,"publisher":"American Academy of Pediatrics (AAP)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,9,1]]},"abstract":"<jats:p>Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families.<\/jats:p>","DOI":"10.1542\/peds.2005-1440","type":"journal-article","created":{"date-parts":[[2005,9,1]],"date-time":"2005-09-01T00:36:02Z","timestamp":1125534962000},"page":"771-783","source":"Crossref","is-referenced-by-count":186,"title":["Health Supervision for Children With Achondroplasia"],"prefix":"10.1542","volume":"116","author":[{"given":"Tracy L.","family":"Trotter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"and the Committee on Genetics","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2005,9,1]]},"reference":[{"key":"2021120820023833200_R1","doi-asserted-by":"crossref","unstructured":"American Academy of Pediatrics, Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics.\u20081995;95:443\u2013451","DOI":"10.1542\/peds.95.3.443"},{"key":"2021120820023833200_R2","doi-asserted-by":"crossref","unstructured":"Horton WA. Fibroblast growth factor receptor 3 and the human chondrodysplasias. Curr Opin Pediatr.\u20081997;9:437\u2013442","DOI":"10.1097\/00008480-199708000-00021"},{"key":"2021120820023833200_R3","doi-asserted-by":"crossref","unstructured":"Pauli RM. Achondroplasia. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York, NY: Wiley-Liss; 2001:9\u201332","DOI":"10.1002\/9781119432692.ch2"},{"key":"2021120820023833200_R4","doi-asserted-by":"crossref","unstructured":"Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. Am J Med Genet.\u20081995;59:209\u2013217","DOI":"10.1002\/ajmg.1320590218"},{"key":"2021120820023833200_R5","doi-asserted-by":"crossref","unstructured":"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.\u20081994;78:335\u2013342","DOI":"10.1016\/0092-8674(94)90302-6"},{"key":"2021120820023833200_R6","doi-asserted-by":"crossref","unstructured":"Rousseau F, Bonaventure J, Legeai-Mallet L, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature.\u20081994;371:252\u2013254","DOI":"10.1038\/371252a0"},{"key":"2021120820023833200_R7","unstructured":"Bellus GA, Hefferon TW, Ortiz de Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations in FGFR3. Am J Hum Genet.\u20081995;56:368\u2013373"},{"key":"2021120820023833200_R8","unstructured":"Francomano CA. GeneReviews: achondroplasia. Available at: www.genetests.org. Accessed July 16, 2003"},{"key":"2021120820023833200_R9","doi-asserted-by":"crossref","unstructured":"Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. Standard growth curves for achondroplasia. J Pediatr.\u20081978;93:435\u2013438","DOI":"10.1016\/S0022-3476(78)81152-4"},{"key":"2021120820023833200_R10","doi-asserted-by":"crossref","unstructured":"Hecht JT, Butler IJ. Neurologic morbidity associated with achondroplasia. J Child Neurol.\u20081990;5:84\u201397","DOI":"10.1177\/088307389000500203"},{"key":"2021120820023833200_R11","doi-asserted-by":"crossref","unstructured":"Pyeritz RE, Sack GH Jr, Udvarhelyi GB. Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. Am J Med Genet.\u20081987;28:433\u2013444","DOI":"10.1002\/ajmg.1320280221"},{"key":"2021120820023833200_R12","doi-asserted-by":"crossref","unstructured":"Todorov AB, Scott CI Jr, Warren AE, Leeper JD. Developmental screening tests in achondroplastic children. Am J Med Genet.\u20081981;9:19\u201323","DOI":"10.1002\/ajmg.1320090105"},{"key":"2021120820023833200_R13","doi-asserted-by":"crossref","unstructured":"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.\u20081997;18:143\u2013150","DOI":"10.1097\/00004703-199706000-00001"},{"key":"2021120820023833200_R14","unstructured":"Kopits SE. Surgical intervention in achondroplasia. Correction of bowleg deformity in achondroplasia. Johns Hopkins Med J.\u20081980;146:206\u2013209"},{"key":"2021120820023833200_R15","doi-asserted-by":"crossref","unstructured":"Thompson NM, Hecht JT, Bohan TP, et al. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet.\u20081999;88:145\u2013153","DOI":"10.1002\/(SICI)1096-8628(19990416)88:2<145::AID-AJMG10>3.0.CO;2-B"},{"key":"2021120820023833200_R16","doi-asserted-by":"crossref","unstructured":"Modaff P, Horton VK, Pauli RM. Errors in the prenatal diagnosis of children with achondroplasia. Prenat Diagn.\u20081996;16:525\u2013530","DOI":"10.1002\/(SICI)1097-0223(199606)16:6<525::AID-PD909>3.0.CO;2-N"},{"key":"2021120820023833200_R17","unstructured":"Little People of America. Adopting a dwarf child. Available at: http:\/\/lpaonline.org\/lpa_adoptions.html. Accessed July 16, 2003"},{"key":"2021120820023833200_R18","unstructured":"Allanson JE, Hall JG. Obstetrics and gynecologic problems in women with chondrodystrophies. Obstet Gynecol.\u20081986;67:74\u201378"},{"key":"2021120820023833200_R19","doi-asserted-by":"crossref","unstructured":"Flynn M, Pauli RM. Double heterozygosity and compound heterozygosity for disorders affecting bone growth. Am J Med Genet.\u20082003;121A:193\u2013208","DOI":"10.1002\/ajmg.a.20143"},{"key":"2021120820023833200_R20","doi-asserted-by":"crossref","unstructured":"Pauli RM, Conroy MM, Langer LO Jr, et al. Homozygous achondroplasia with survival beyond infancy. Am J Med Genet.\u20081983;16:459\u2013473","DOI":"10.1002\/ajmg.1320160404"},{"key":"2021120820023833200_R21","doi-asserted-by":"crossref","unstructured":"Mettler G, Fraser FC. Recurrence risk for sibs of children with \u201csporadic\u201d achondroplasia. Am J Med Genet.\u20082000;90:250\u2013251","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<250::AID-AJMG13>3.0.CO;2-3"},{"key":"2021120820023833200_R22","doi-asserted-by":"crossref","unstructured":"Henderson S, Sillence D, Loughlin J, Bennetts B, Sykes B. Germline and somatic mosaicism in achondroplasia. J Med Genet.\u20082000;37:956\u2013958","DOI":"10.1136\/jmg.37.12.956"},{"key":"2021120820023833200_R23","doi-asserted-by":"crossref","unstructured":"Sobetzko D, Braga S, Rudeberg A, Superti-Furga A. Achondroplasia with the FGFR3 1138g\u2013&gt;a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. J Med Genet.\u20082000;37:958\u2013959","DOI":"10.1136\/jmg.37.12.958"},{"key":"2021120820023833200_R24","doi-asserted-by":"crossref","unstructured":"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.\u20082001;14:17\u201326","DOI":"10.1515\/JPEM.2001.14.1.17"},{"key":"2021120820023833200_R25","doi-asserted-by":"crossref","unstructured":"Seino Y, Yamanaka Y, Shinohara M, et al. Growth hormone therapy in achondroplasia. Horm Res.\u20082000;53(suppl 3):53\u201356","DOI":"10.1159\/000023534"},{"key":"2021120820023833200_R26","doi-asserted-by":"crossref","unstructured":"Vilarrubias JM, Ginebreda I, Jimeno E. Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. Clin Orthop.\u20081990;250:143\u2013149","DOI":"10.1097\/00003086-199001000-00017"},{"key":"2021120820023833200_R27","doi-asserted-by":"crossref","unstructured":"Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. J Pediatr Orthop B.\u20082001;10:238\u2013247","DOI":"10.1097\/01202412-200110030-00015"},{"key":"2021120820023833200_R28","doi-asserted-by":"crossref","unstructured":"Pauli RM, Scott CI, Wassman ER Jr, et al. Apnea and sudden unexpected death in infants with achondroplasia. J Pediatr.\u20081984;104:342\u2013348","DOI":"10.1016\/S0022-3476(84)81092-6"},{"key":"2021120820023833200_R29","doi-asserted-by":"crossref","unstructured":"Reid CS, Pyeritz RE, Kopits SE, et al. Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. J Pediatr.\u20081987;110:522\u2013530","DOI":"10.1016\/S0022-3476(87)80542-5"},{"key":"2021120820023833200_R30","doi-asserted-by":"crossref","unstructured":"Hecht JT, Butler IJ, Scott CI Jr. Long-term neurological sequelae in achondroplasia. Eur J Pediatr.\u20081984;143:58\u201360","DOI":"10.1007\/BF00442750"},{"key":"2021120820023833200_R31","unstructured":"Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet.\u20081995;56:732\u2013744"},{"key":"2021120820023833200_R32","doi-asserted-by":"crossref","unstructured":"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.\u20082001;160:10\u201320","DOI":"10.1007\/PL00008410"},{"key":"2021120820023833200_R33","doi-asserted-by":"crossref","unstructured":"Rollins N, Booth T, Shapiro K. The use of gated cine phase contrast and MR venography in achondroplasia. Childs Nerv Syst.\u20082000;16:569\u2013575; discussion 575\u2013577","DOI":"10.1007\/PL00007299"},{"key":"2021120820023833200_R34","doi-asserted-by":"crossref","unstructured":"Keiper GL Jr, Koch B, Crone KR. Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg.\u20081999;31:78\u201383","DOI":"10.1159\/000028838"},{"key":"2021120820023833200_R35","doi-asserted-by":"crossref","unstructured":"Steinbok P, Hall J, Flodmark O. Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. J Neurosurg.\u20081989;71:42\u201348","DOI":"10.3171\/jns.1989.71.1.0042"},{"key":"2021120820023833200_R36","doi-asserted-by":"crossref","unstructured":"Stokes DC, Phillips JA, Leonard CO, et al. Respiratory complications of achondroplasia. J Pediatr.\u20081983;102:534\u2013541","DOI":"10.1016\/S0022-3476(83)80180-2"},{"key":"2021120820023833200_R37","doi-asserted-by":"crossref","unstructured":"Hall JG. Kyphosis in achondroplasia: probably preventable. J Pediatr.\u20081988;112:166\u2013167","DOI":"10.1016\/S0022-3476(88)80157-4"},{"key":"2021120820023833200_R38","doi-asserted-by":"crossref","unstructured":"Pauli RM, Breed A, Horton VK, Glinski LP, Reiser CA. Prevention of fixed, angular kyphosis in achondroplasia. J Pediatr Orthop.\u20081997;17:726\u2013733","DOI":"10.1097\/01241398-199711000-00006"},{"key":"2021120820023833200_R39","doi-asserted-by":"crossref","unstructured":"Berkowitz ID, Raja SN, Bender KS, Kopits SE. Dwarfs: pathophysiology and anesthetic implications. Anesthesiology.\u20081990;73:739\u2013759","DOI":"10.1097\/00000542-199010000-00021"},{"key":"2021120820023833200_R40","doi-asserted-by":"crossref","unstructured":"Morrow MJ, Black IH. Epidural anaesthesia for caesarean section in an achondroplastic dwarf. Br J Anaesth.\u20081998;81:619\u2013621","DOI":"10.1093\/bja\/81.4.619"},{"key":"2021120820023833200_R41","doi-asserted-by":"crossref","unstructured":"Hecht JT, Horton WA, Reid CS, Pyeritz RE, Chakraborty R. Growth of the foramen magnum in achondroplasia. Am J Med Genet.\u20081989;32:528\u2013535","DOI":"10.1002\/ajmg.1320320421"},{"key":"2021120820023833200_R42","doi-asserted-by":"crossref","unstructured":"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.\u20081995;59:460\u2013466","DOI":"10.1002\/ajmg.1320590412"},{"key":"2021120820023833200_R43","doi-asserted-by":"crossref","unstructured":"Zucconi M, Weber G, Castronovo V, et al. Sleep and upper airway obstruction in children with achondroplasia. J Pediatr.\u20081996;129:743\u2013749","DOI":"10.1016\/S0022-3476(96)70159-2"},{"key":"2021120820023833200_R44","doi-asserted-by":"crossref","unstructured":"Mogayzel PJ Jr, Carroll JL, Loughlin GM, Hurko O, Francomano CA, Marcus CL. Sleep-disordered breathing in children with achondroplasia. J Pediatr.\u20081998;132:667\u2013671","DOI":"10.1016\/S0022-3476(98)70358-0"},{"key":"2021120820023833200_R45","doi-asserted-by":"crossref","unstructured":"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.\u20081998;79:99\u2013108","DOI":"10.1136\/adc.79.2.99"},{"key":"2021120820023833200_R46","doi-asserted-by":"crossref","unstructured":"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.\u20082002;109:550\u2013553","DOI":"10.1542\/peds.109.3.550"},{"key":"2021120820023833200_R47","unstructured":"Automotive Safety Program. Transporting Children With Special Health Care Needs: Training and Resource Manual. Indianapolis, IN: Automotive Safety Program; 2000:13\u201314"},{"key":"2021120820023833200_R48","doi-asserted-by":"crossref","unstructured":"Hecht JT, Hood OJ, Schwartz RJ, Hennessey JC, Bernhardt BA, Horton WA. Obesity in achondroplasia. Am J Med Genet.\u20081988;31:597\u2013602","DOI":"10.1002\/ajmg.1320310314"},{"key":"2021120820023833200_R49","doi-asserted-by":"crossref","unstructured":"Hunter AG, Hecht JT, Scott CI Jr. Standard weight for height curves in achondroplasia. Am J Med Genet.\u20081996;62:255\u2013261","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<255::AID-AJMG10>3.0.CO;2-J"},{"key":"2021120820023833200_R50","unstructured":"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"},{"key":"2021120820023833200_R51","unstructured":"National Highway Traffic Safety Administration. Standardized Child Passenger Safety Training Program: Instructor Guide. Washington, DC: National Highway Traffic Safety Administration; 2000:F-22\u2013F-23"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/116\/3\/771\/1005164\/zpe00905000771.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/116\/3\/771\/1005164\/zpe00905000771.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,4]],"date-time":"2023-05-04T09:55:36Z","timestamp":1683194136000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/116\/3\/771\/68378\/Health-Supervision-for-Children-With"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9,1]]},"references-count":51,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2005,9,1]]},"published-print":{"date-parts":[[2005,9,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2005-1440","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9,1]]}}}