{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:38:07Z","timestamp":1790199487033,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,3,27]],"date-time":"2012-03-27T00:00:00Z","timestamp":1332806400000},"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":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Utah Birth Defect Network (UBDN) collects population\u2010based data for Utah on births from all resident women. The prevalence of skeletal dysplasias and epidemiologic characteristics\/outcomes were evaluated. Cases categorized as a skeletal dysplasia from all live births, stillbirths, and pregnancy terminations (TAB) between 1999 and 2008 were reviewed by three clinical geneticists. After case review, 153 were included for analysis (88% live births, 3% stillborn, 9% TAB), and categorized by groupings defined by molecular, biochemical, and\/or radiographic criteria as outlined in the 2010 Nosology and Classification of Genetic Skeletal Disorders. The overall prevalence for skeletal dysplasias was 3.0 per 10,000 births, and 20.0 per 10,000 stillbirths. The most common diagnostic groups were osteogenesis imperfecta (OI; n\u2009=\u200940; 0.79 per 10,000), thanatophoric dysplasia (n\u2009=\u200922; 0.43 per 10,000), achondroplasia (n\u2009=\u200918; 0.35 per 10,000), and cleidocranial dysplasia (n\u2009=\u20096; 0.12 per 10,000). The most common groups based on the 2010 Nosology and Classification of Genetic Skeletal Disorders were the <jats:italic>FGFR3<\/jats:italic> chondrodysplasia group (n\u2009=\u200941; 0.81 per 10,000), the OI\/decreased bone density group (n\u2009=\u200940; 0.79 per 10,000), and the type 2 collagen group (n\u2009=\u200910; 0.2 per 10,000). Median age of postnatal diagnosis was 30 days (range 1\u20132,162). Of those deceased, 88% were prenatally suspected; of those alive 29% prenatally suspected. Median age of death for live born individuals was 1 day (range 1\u20131,450 days). Previously reported prevalence rates vary, but our data provide a population\u2010based approach not limited to the perinatal\/neonatal period. Understanding the range for survival within each group\/diagnosis is beneficial for health care providers when counseling families. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35327","type":"journal-article","created":{"date-parts":[[2012,3,29]],"date-time":"2012-03-29T12:09:35Z","timestamp":1333022975000},"page":"1046-1054","source":"Crossref","is-referenced-by-count":86,"title":["Analysis of skeletal dysplasias in the Utah population"],"prefix":"10.1002","volume":"158A","author":[{"given":"David A.","family":"Stevenson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice L.B.","family":"Byrne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sivithee","family":"Srisukhumbowornchai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia L.","family":"Feldkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,3,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.1.37"},{"key":"e_1_2_6_3_1","first-page":"441","article-title":"Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects","volume":"104","author":"Camera G","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_6_4_1","volume-title":"Surveillance Procedure Manual and Guide to Computerized Anomaly Record","author":"Centers for Disease Control and Prevention, Metropolitan Atlanta Congenital Defects Program","year":"1998"},{"key":"e_1_2_6_5_1","first-page":"1062","article-title":"A Report from the National Birth Defects Prevention Network. 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