{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:13:23Z","timestamp":1789179203989,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T00:00:00Z","timestamp":1392163200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:p>BACKGROUND: Natural history studies performed 30 years ago identifying higher mortality among children born with achondroplasia, a genetic dwarfing condition, resulted in clinical recommendations aimed at improving mortality in childhood. The objective of this study was to determine if mortality rates have changed over the past few decades. METHODS: Children born with achondroplasia during 1996 to 2003 were ascertained from the Texas Birth Defects Registry and matched with death certificate data from the Bureau of Vital Statistics through 2007. Infant and overall mortality rates, both crude and standardized to the 2005 (SMR<jats:sub>2005<\/jats:sub>) and 1975 (SMR<jats:sub>1975<\/jats:sub>) U.S. populations, were calculated. RESULTS: 106 children born with achondroplasia were identified. Four deaths were reported, with all occurring in the first year of life (mortality rate: 41.4 \/1000 live\u2010births). Infant mortality was higher when standardized to the 2005 U.S. population (SMR<jats:sub>2005<\/jats:sub>:6.02, 95% CI:1.64\u201315.42) than the 1975 population (SMR<jats:sub>1975<\/jats:sub>:2.58, 95% CI:0.70\u20136.61). CONCLUSION: The higher SMR<jats:sub>2005<\/jats:sub> compared with SMR<jats:sub>1975<\/jats:sub>, along with the fact that SMR<jats:sub>1975<\/jats:sub> was nearly half that of a previous cohort reported 25 years ago (rate ratio: 0.53, 95% CI: 0.11\u20132.25), reflect a discrepancy in the changes in mortality in the overall population and in our cohort. Although an overall improvement in mortality, especially after the first year of life, is observed in our cohort, children with achondroplasia are still at a much higher risk of death compared with the general population. A longer follow\u2010up is needed to elucidate whether evaluation\/intervention changes have resulted in significant improvement in long\u2010term survival among these patients. Birth Defects Research (Part A) 100:247\u2013249, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/bdra.23210","type":"journal-article","created":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T12:31:20Z","timestamp":1392208280000},"page":"247-249","source":"Crossref","is-referenced-by-count":43,"title":["Mortality in babies with achondroplasia: Revisited"],"prefix":"10.1002","volume":"100","author":[{"given":"Kristen","family":"Simmons","sequence":"first","affiliation":[{"name":"Pediatric Research Center Department of Pediatrics University of Texas Medical School at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Shahrukh","family":"Hashmi","sequence":"additional","affiliation":[{"name":"Pediatric Research Center Department of Pediatrics University of Texas Medical School at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Scheuerle","sequence":"additional","affiliation":[{"name":"Tesserae Genetics Dallas Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Canfield","sequence":"additional","affiliation":[{"name":"Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline T.","family":"Hecht","sequence":"additional","affiliation":[{"name":"Pediatric Research Center Department of Pediatrics University of Texas Medical School at Houston Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,2,12]]},"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","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1982.tb13654.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389000500203"},{"key":"e_1_2_6_5_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_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61090-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.9.705"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000028838"},{"key":"e_1_2_6_9_1","first-page":"1","article-title":"Deaths: final data for 2005","volume":"56","author":"Kung HC","year":"2008","journal-title":"Natl Vital Stat Rep"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.140"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81092-6"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.2105\/AJPH.85.7.957"},{"key":"e_1_2_6_13_1","volume-title":"Report of Birth Defects Among 1999\u20132001 Deliveries","author":"TxDSHS","year":"2004"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33156"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32485"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31919"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcp\/68.1.68"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.23210","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23210","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/bdra.23210","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23210","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T03:44:31Z","timestamp":1693194271000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23210"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,12]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["10.1002\/bdra.23210"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23210","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,12]]}}}