{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:27:13Z","timestamp":1763036833675,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,7,26]],"date-time":"2014-07-26T00:00:00Z","timestamp":1406332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4\u20134.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002\u20132011 at our center. The study population consisted of fetuses diagnosed with skeletal dysplasia with subsequent termination, stillbirth and live\u2010born who died shortly after birth. Of the 2002 autopsies performed, 112 (5.6%) were diagnosed with skeletal dysplasia. These 112 cases encompassed 17 of 40 groups of Nosology 2010. The two most common Nosology groups were osteogenesis imperfecta [OI, 27\/112 (24%)] and the fibroblast growth factor receptor type 3 (<jats:styled-content style=\"fixed-case\">FGFR3<\/jats:styled-content>) chondrodysplasias [27\/112 (24%)]. The most common specific diagnoses were thanatophoric dysplasia (<jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content>) type 1 [20 (17.9%)], and <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> type 2 [20 (17.9%)]. The combined radiology, pathology, and genetic investigations and grouping the cases using Nosology 2010 resulted in a specific diagnosis in 96 of 112 cases.<\/jats:p>","DOI":"10.1111\/cge.12434","type":"journal-article","created":{"date-parts":[[2014,5,26]],"date-time":"2014-05-26T10:22:38Z","timestamp":1401099758000},"page":"330-337","source":"Crossref","is-referenced-by-count":30,"title":["Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases"],"prefix":"10.1111","volume":"87","author":[{"given":"E.","family":"Barkova","sequence":"first","affiliation":[{"name":"Department of Medical Imaging South Shore Regional Hospital  Bridgewater Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Calgary  Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Chitayat","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology, Mount Sinai Hospital"},{"name":"Department of Paediatrics Division of Medical and Metabolic Genetics"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Keating","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology Perinatal Pathology, Mount Sinai Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Toi","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Imaging Mount Sinai Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Frank","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology, Mount Sinai Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Frank","sequence":"additional","affiliation":[{"name":"The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology, Mount Sinai Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9328-6399","authenticated-orcid":false,"given":"G.","family":"Tomlinson","sequence":"additional","affiliation":[{"name":"Institute of Health Policy Management &amp; Evaluation"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Glanc","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging, Sunnybrook Health Sciences Centre University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,7,26]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.284075122"},{"key":"e_1_2_7_3_1","first-page":"2192","volume-title":"The fetal musculoskeletal system","author":"Glanc P","year":"2011"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0095-5108(18)30563-3"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35327"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.6359"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20617"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1594"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32554"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.463"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32269"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2003.22.3.255"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(93)90641-U"},{"key":"e_1_2_7_17_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_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cult.2008.09.003"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12434","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12434","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T11:58:47Z","timestamp":1696334327000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12434"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,26]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/cge.12434"],"URL":"https:\/\/doi.org\/10.1111\/cge.12434","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"type":"print","value":"0009-9163"},{"type":"electronic","value":"1399-0004"}],"subject":[],"published":{"date-parts":[[2014,7,26]]}}}