{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T10:30:26Z","timestamp":1781173826465,"version":"3.54.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T00:00:00Z","timestamp":1644364800000},"content-version":"vor","delay-in-days":39,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>This study aimed to analyze the physical and psychosocial development of long\u2010term survivors (age &gt;1\u2009year) of thanatophoric dysplasia (TD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The participants were 20 long\u2010term survivors recruited from a cohort obtained through a nationwide survey for TD conducted across 147 pediatric departments in Japan between 2012 and 2016. Their guardians consented to participate in this study. Medical and psychosocial information was collected through questionnaires and interviews with primary physicians and guardians.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The participants were 1.2\u201327.8\u2009years old, and all showed marked growth deficiency. The mean length at birth was 36\u2009cm (\u22123.4 SD to \u22127.9 SD). The adult height (age &gt;16\u2009years) was &lt;\u221215.2 SD. All individuals showed severely delayed psychomotor development. The highest level of psychosocial development was equivalent to that at 2\u2009years of age. Skin disorders (acanthosis nigricans and seborrheic keratoses) were common. Eleven subjects had been hospitalized or institutionalized consistently after birth, and nine had been moved to home care, and four were exclusively orally fed. All individuals required assisted ventilation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Long\u2010term survival of TD individuals is common. Some individuals enjoy home\u2010based lives; however, they are severely psychosocially and physically disabled and require meticulous respiratory and nutritional support.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.15007","type":"journal-article","created":{"date-parts":[[2021,10,1]],"date-time":"2021-10-01T17:30:26Z","timestamp":1633109426000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Development of individuals with thanatophoric dysplasia surviving beyond infancy"],"prefix":"10.1111","volume":"64","author":[{"given":"Mariko","family":"Ushioda","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo College of Medicine Nishinomiya\u2010shi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8997-464X","authenticated-orcid":false,"given":"Hideaki","family":"Sawai","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo College of Medicine Nishinomiya\u2010shi Japan"},{"name":"Department of Clinical Genetics Hyogo College of Medicine Nishinomiya\u2010shi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2661-8047","authenticated-orcid":false,"given":"Hironao","family":"Numabe","sequence":"additional","affiliation":[{"name":"Clinical Genetics Center Tokyo Medical University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Intractable Disease Center Saitama Medical University Hospital Moroyama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Shibahara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hyogo College of Medicine Nishinomiya\u2010shi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,9]]},"reference":[{"key":"e_1_2_9_2_1","volume-title":"Fetology: diagnosis and management of the fetal patient","author":"Bianci D","year":"2010"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780190626655.001.0001"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01241.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb03161.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102133.2010.09879.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J"},{"key":"e_1_2_9_8_1","first-page":"989","article-title":"A case of thanatophoric dysplasia with long survival (author's transl)","volume":"26","author":"Hamada S","year":"1981","journal-title":"Rinsho Hoshasen"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330420"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13927"},{"key":"e_1_2_9_11_1","unstructured":"Study group of skeletal dysplasias(2020 July 20).Research on Rare and Intractable Diseases Health and Labour Sciences Research Grants [in Japanese]. [cited 2021 October 10]. Available fromhttps:\/\/www.thanatophoric.com\/"},{"key":"e_1_2_9_12_1","unstructured":"The Japanese Society for Pediatric Endocrinology(2020 October 5).Excel\u2010based Clinical Tools for Growth Evaluation of Children. [cited 2021 October 10]. Available fromhttp:\/\/jspe.umin.jp\/jspe_test\/medical\/taikaku.html"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI28163"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1610\u20100387.2008.06788.x"},{"key":"e_1_2_9_15_1","first-page":"2404","article-title":"High frequency of FGFR3 mutations in adenoid seborrheic keratoses","volume":"126","author":"Hafner C","year":"2006","journal-title":"J. Clin. 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