{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:01:23Z","timestamp":1783443683988,"version":"3.54.6"},"reference-count":34,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T00:00:00Z","timestamp":1430352000000},"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":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>This study shares data on 417 patients with genetic disorders of skeleton including 10 fetal autopsies encountered in a 5\u2010year period at a tertiary university hospital in Ankara, Turkey. We included patients with osteochondrodysplasias, excluding overgrowth syndromes, dysostoses, and craniofacial syndromes. When grouped according to the \u201cInternational Skeletal Dysplasia Society 2010 classification\u201d the most frequent group is \u201cFGFR3 group\u201d (achondroplasia). \u201cDecreased bone density group\u201d takes the second place, consistent with the literature. We also demonstrated, a relatively higher frequency of recessively inherited skeletal dysplasias when the diagnosis is an entity other than achondroplasia or osteogenesis imperfecta. The literature on the incidence of genetic disorders of skeleton from the Middle East and Eastern Mediterranean is limited to fetal and neonatal autopsies or birth prevelance reports. The higher rate of consanguineous marriages which increases the frequency of autosomal recessive entities makes it difficult to apply data from other parts of the world. Total consanguinity rate among parents in our study was 53% and there were regional differences. The highest (79%) was among parents from South\u2010east Anatolia. This study is the first broad retrospective analysis of genetic disorders of skeleton from our region. We aim to provide a descriptive source for future studies and discuss our findings in comparison to reports from other parts of the world. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37122","type":"journal-article","created":{"date-parts":[[2015,4,30]],"date-time":"2015-04-30T14:15:48Z","timestamp":1430403348000},"page":"2065-2074","source":"Crossref","is-referenced-by-count":14,"title":["Experience of a skeletal dysplasia registry in Turkey: A five\u2010years retrospective analysis"],"prefix":"10.1002","volume":"167","author":[{"given":"Eda Didem","family":"Kurt\u2010Sukur","sequence":"first","affiliation":[{"name":"Pediatric Genetics Unit, Department of Pediatrics Ihsan Do\u011framac\u0131 Children's Hospital, Hacettepe School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pelin Ozlem","family":"Simsek\u2010Kiper","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Department of Pediatrics Ihsan Do\u011framac\u0131 Children's Hospital, Hacettepe School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fclen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Department of Pediatrics Ihsan Do\u011framac\u0131 Children's Hospital, Hacettepe School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koray","family":"Boduroglu","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Department of Pediatrics Ihsan Do\u011framac\u0131 Children's Hospital, Hacettepe School of Medicine Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Department of Pediatrics Ihsan Do\u011framac\u0131 Children's Hospital, Hacettepe School of Medicine Ankara Turkey"},{"name":"Pediatric Genetics, Department of Pediatrics Acibadem University School of Medicine \u0130stanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10009"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.09.002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31119"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-006-0217-z"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2008.02752.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35246"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043687"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30906"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.603"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065201"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31333"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-009-1028-7"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30231"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21150"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.001"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20617"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33347"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1017\/S002193200700226X"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32269"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.011"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.749"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36668"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.328"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-007-0183-y"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31081"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.paed.2008.02.008"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35327"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02912.x"},{"key":"e_1_2_6_30_1","first-page":"277","article-title":"Clinical outcomes of consanguineous marriages in Turkey","volume":"43","author":"Tuncbilek E.","year":"2001","journal-title":"Turk J Pediatr"},{"key":"e_1_2_6_31_1","unstructured":"Turkish Statistical Institute.2014. 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