{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T18:13:20Z","timestamp":1789409600984,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T00:00:00Z","timestamp":1598832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There are limited data on the longitudinal frequency and severity of the symptoms and complications of achondroplasia. We undertook a retrospective electronic chart review of 114 patients to develop a more thorough understanding of the lifetime impact of achondroplasia. Craniocervical stenosis (involving the foramen magnum with or without cervical vertebrae C1 and\/or C2) was noted in nearly 50% of patients with craniovertebral junction imaging; however, corrective decompression surgery was only needed in 6% of patients. No children in our cohort died at 4\u2009years of age or under. Kyphosis was present in most patients but usually resolved in early childhood. Cervical and lumbar stenosis were diagnosed in children and adults while, genu varum, elbow contractures, and radial head dislocations were identified during childhood. Central sleep apnea and obstructive sleep apnea were present in children, while the diagnosis of obstructive sleep apnea was shown to recur in adulthood. Cardiovascular risk factors were present in only 7% of patients. A range of mental health disorders were identified, with most diagnoses being made before 18\u2009years of age. Our data show that achondroplasia has a significant impact on patients' physical health, and complications continue to be reported and require intervention throughout patients' lifetimes. This highlights the need for continuous support beyond pediatric care, by adult care clinicians experienced with managing the long\u2010term complications of achondroplasia.<\/jats:p>","DOI":"10.1002\/ajmg.a.61825","type":"journal-article","created":{"date-parts":[[2020,8,31]],"date-time":"2020-08-31T08:29:40Z","timestamp":1598862580000},"page":"2540-2551","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Natural history of achondroplasia: A retrospective review of longitudinal clinical data"],"prefix":"10.1002","volume":"182","author":[{"given":"Ericka","family":"Okenfuss","sequence":"first","affiliation":[{"name":"Department of Genetics Kaiser Permanente  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Billur","family":"Moghaddam","sequence":"additional","affiliation":[{"name":"Department of Genetics Kaiser Permanente  Sacramento California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew L.","family":"Avins","sequence":"additional","affiliation":[{"name":"Division of Research Kaiser Permanente  Oakland California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,31]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-083115-022656"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.12.008"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.6061\/clinics\/2018\/e324"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.133.3.237"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0471"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13542"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.23736\/S0026-4946.16.04401-7"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20127"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.017"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40528"},{"key":"e_1_2_9_12_1","first-page":"551","volume-title":"Handbook of Clinical Neurology","author":"Hecht J. T.","year":"2014"},{"issue":"3","key":"e_1_2_9_13_1","first-page":"454","article-title":"Mortality in achondroplasia","volume":"41","author":"Hecht J. T.","year":"1987","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61090-3"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.705"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2012.04234.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S51485"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-198203000-00008"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-200110000-00029"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3171\/2009.3.PEDS08344"},{"key":"e_1_2_9_21_1","first-page":"189","article-title":"Orthopedic aspects of achondroplasia in children","volume":"48","author":"Kopits S. E.","year":"1988","journal-title":"Basic Life Sciences"},{"key":"e_1_2_9_22_1","first-page":"241","article-title":"Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children","volume":"48","author":"Kopits S. E.","year":"1988","journal-title":"Basic Life Sciences"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<30::AID-AJMG7>3.0.CO;2-P"},{"issue":"8","key":"e_1_2_9_24_1","first-page":"1723","article-title":"Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort","volume":"176","author":"Merker A.","year":"2018","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/jocn.12531"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/jor.23608"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590218"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0972-6"},{"issue":"4","key":"e_1_2_9_29_1","first-page":"824","article-title":"Cervicomedullary junction compression in infants with achondroplasia: When to perform neurosurgical decompression","volume":"56","author":"Rimoin D. L.","year":"1995","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/371252a0"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0070-0"},{"issue":"5","key":"e_1_2_9_32_1","first-page":"372","article-title":"Spinal stenosis surgery in pediatric patients with achondroplasia","volume":"106","author":"Sciubba D. M.","year":"2007","journal-title":"Journal of Neurosurgery"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90302-6"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0194-5998(99)70414-6"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38130"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-1440"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-017-0347-2"},{"key":"e_1_2_9_38_1","unstructured":"United States Department of Justice Civil Rights Division. (1990).Americans with Disabilities Act of 1990 as amended."},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaac.2013.09.001"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32485"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.189092"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31919"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61825","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61825","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61825","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T05:55:40Z","timestamp":1693720540000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61825"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,31]]},"references-count":41,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2020,11]]}},"alternative-id":["10.1002\/ajmg.a.61825"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61825","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,31]]},"assertion":[{"value":"2020-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-07-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}