{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T07:34:42Z","timestamp":1790494482566,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,8,27]],"date-time":"2019-08-27T00:00:00Z","timestamp":1566864000000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Thanatophoric dysplasia (<jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content>) is a rare congenital disease of the skeletal system, with an incidence of 1.68\u20138.3 per 100\u00a0000 births, but statistical data on the estimated number of <jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content> patients across Japan are not available. The aim of this study was therefore to investigate the prevalence and prognosis of <jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content> in Japan.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A nationwide primary questionnaire survey was conducted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 127 obstetric, 186 pediatric, and 115 orthopedic facilities provided responses. Excluding duplications, we identified 73 patients with <jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content>. Of the 73 cases, 15 were abortions, four were stillbirths, 51 were live births, and three had unknown details. Of the 51 live newborns, 27 died \u22647\u00a0days after birth, with an early neonatal mortality rate of 56%. Of the 24 newborns who survived the early neonatal period, 16 survived for \u22651\u00a0year. All of the 24 newborns received respiratory management and survived during the early neonatal period. Of the 51 live newborns, 25 did not receive respiratory management and died \u22642\u00a0days after birth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The prevalence of <jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content> in Japan is estimated to be at 1.1 (95%CI: 0.84\u20131.37) per 100\u00a0000 births, but the actual incidence is expected to be higher. To our knowledge, we have confirmed for the first time that newborns with <jats:styled-content style=\"fixed-case\">TD<\/jats:styled-content> may not always die during the early neonatal period but can survive the early neonatal period with appropriate respiratory management. Therefore, the term \u201cthanatophoric dysplasia\u201d does not accurately reflect the nature of the disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.13927","type":"journal-article","created":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T16:19:07Z","timestamp":1561652347000},"page":"748-753","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["National survey of prevalence and prognosis of thanatophoric dysplasia in Japan"],"prefix":"10.1111","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8997-464X","authenticated-orcid":false,"given":"Hideaki","family":"Sawai","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo College of Medicine Nishinomiya Japan"},{"name":"Genetic Counsellor Course Kyoto University School of Public Health Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaname","family":"Oka","sequence":"additional","affiliation":[{"name":"Genetic Counsellor Course Kyoto University School of Public Health Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariko","family":"Ushioda","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo College of Medicine Nishinomiya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Intractable Disease Center Saitama Medical University Hospital Moroyama, Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Omori","sequence":"additional","affiliation":[{"name":"Division of Biostatistics Department of Social\/Community Medicine and Health Science Kobe University School of Medicine Kobe Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironao","family":"Numabe","sequence":"additional","affiliation":[{"name":"Genetic Counsellor Course Kyoto University School of Public Health Kyoto Japan"},{"name":"Department of Medical Genetics Tokyo Medical University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Kosugi","sequence":"additional","affiliation":[{"name":"Genetic Counsellor Course Kyoto University School of Public Health Kyoto Japan"},{"name":"Department of Medical Ethics and Medical Genetics Kyoto University School of Public Health Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,27]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias","author":"Lachman RS","year":"2007"},{"key":"e_1_2_8_3_1","volume-title":"Bone Dysplasias","author":"Spranger WS","year":"2002"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32485"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.328"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220205"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.1495"},{"key":"e_1_2_8_8_1","first-page":"1","article-title":"Survival of newborns with thanatophoric dysplasia","volume":"1","author":"Wada K","year":"2014","journal-title":"J. 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