{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:22:24Z","timestamp":1792513344527,"version":"4.5.0"},"reference-count":40,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,9,19]],"date-time":"2007-09-19T00:00:00Z","timestamp":1190160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achondroplasia (ACH) is the most common dwarfing condition having a prevalence of 1\/25,000 live births. An increase in overall mortality, age specific mortality up to age 34 years and heart disease\u2010related mortality was first reported in a 1987 study of a large population of ACH individuals. Since this study, concern about premature death, particularly in young adults, has persisted in the ACH population. The present study was undertaken to follow\u2010up the patterns of mortality in a more contemporaneous ACH population. The vital status of 718 ACH individuals from the original study and 75 new ACH individuals was determined through the search of two computerized mortality database. The results showed that the overall mortality and age\u2010specific mortality at all ages remained significantly increased. Rates of death were similar across all 42 years of follow\u2010up suggesting that higher death rates were still occurring in the contemporary ACH population. Accidental, neurological, and heart disease\u2010related deaths were increased in adults. Heart disease\u2010related mortality, between ages 25 and 35, was more than 10 times higher than the general population. Overall survival and the average life expectancy for this ACH population were decreased by 10 years. These results demonstrate that despite advances in the knowledge of the natural history of ACH and health care needs of this population, mortality remains significantly increased. The high rate of heart disease related deaths illustrates the need to identify risk factors in the ACH population and develop treatment interventions accordingly. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31919","type":"journal-article","created":{"date-parts":[[2007,9,19]],"date-time":"2007-09-19T17:19:45Z","timestamp":1190222385000},"page":"2502-2511","source":"Crossref","is-referenced-by-count":132,"title":["Mortality in achondroplasia study: A 42\u2010year follow\u2010up"],"prefix":"10.1002","volume":"143A","author":[{"given":"Julia","family":"Wynn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terri M.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Gambello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Kim","family":"Waller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline T.","family":"Hecht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,9,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00002517-200004000-00013"},{"key":"e_1_2_6_3_1","unstructured":"AndersonRN SmithBL.2005.Deaths: Leading Causes for 2002. National Vital Statistics Reports 53."},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.311.6998.171"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1982.tb13654.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a115470"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.2000.00747.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199501053320113"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20127"},{"key":"e_1_2_6_10_1","first-page":"3","article-title":"The natural history of achondroplasia","volume":"48","author":"Hall JG","year":"1988","journal-title":"Basic Life Sci"},{"key":"e_1_2_6_11_1","first-page":"1","article-title":"Births: Preliminary data for 2004","volume":"54","author":"Hamilton BE","year":"2005","journal-title":"Nat Vital Stat Rep"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389000500203"},{"key":"e_1_2_6_13_1","first-page":"454","article-title":"Mortality in achondroplasia","volume":"41","author":"Hecht JT","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_14_1","first-page":"101","article-title":"Growth curves in achondroplasia","volume":"13","author":"Horton WA","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.705"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.psych.56.091103.070320"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000028838"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0033291799002925"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<30::AID-AJMG7>3.0.CO;2-P"},{"key":"e_1_2_6_20_1","unstructured":"NCHS.1985.U.S. Decennial Life Tables for 1979\u201381. US Department of Health and Human Services. Washington DC: Library of Congress."},{"key":"e_1_2_6_21_1","unstructured":"NCHS.1997.U.S. Decennial Life Tables for 1998\u201391. US Department of Health and Human Services. Washington DC: Library of Congress."},{"key":"e_1_2_6_22_1","unstructured":"NCHS.2003.Death rates by 10\u2010year age groups and age\u2010adjusted death rates for 113 selected causes race and sex: United States 1979\u201398. National Vital Statistics System. Washington DC."},{"key":"e_1_2_6_23_1","unstructured":"NDI.2000.National Death Index User's Manual. Statistics NCfH editor. Hyattsville: Centers for Disease Control and Prevention. p1\u201357."},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.140"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.328"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-199001000-00005"},{"key":"e_1_2_6_27_1","first-page":"1501","article-title":"Surgical intervention in achondroplasia","volume":"56","author":"Pauli RM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81092-6"},{"key":"e_1_2_6_29_1","first-page":"732","article-title":"Prospective assessment of risks for cervicomedullary\u2010junction compression in infants with achondroplasia","volume":"56","author":"Pauli RM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_30_1","first-page":"824","article-title":"Cervicomedullary junction compression in infants with achondroplasia: When to perform neurosurgical decompression","volume":"56","author":"Rimoin DL","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/1478-7954-2-2"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90302-6"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1047-2797(98)00061-1"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02912.x"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2004.10.004"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-1440"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2796.1999.00454.x"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.2105\/AJPH.73.11.1270"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1086\/302000"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/68.1.68"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(05)67663-5"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31919","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31919","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:13:01Z","timestamp":1697595181000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,19]]},"references-count":40,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1002\/ajmg.a.31919"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31919","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,19]]}}}