{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:55:08Z","timestamp":1760745308429},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a boy with <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>esbuquois dysplasia type 1. He had the typical skeletal changes: a \u201c<jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>wedish key\u201d appearance of the proximal femora; advanced carpal ossification and other distinctive features of the hand, including an extra\u2010ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb. In addition, he presented with very severe prenatal growth failure, respiratory distress as a neonate, subsequent failure to thrive and susceptibility to airway infection, and sudden death in early childhood. Molecular analysis identified homozygous 1\u2009bp deletion in the <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>alcium\u2010<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>ctivated <jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>ucleotidase 1 gene (<jats:italic><jats:styled-content style=\"fixed-case\">CANT1<\/jats:styled-content><\/jats:italic>). To our knowledge, this is the first report of <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>esbuquois dysplasia type 1 in <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>apan. Our experience suggests potential lethality in the disorder.<\/jats:p>","DOI":"10.1111\/ped.12383","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T06:25:25Z","timestamp":1411539925000},"source":"Crossref","is-referenced-by-count":18,"title":["Case of <scp>D<\/scp>esbuquois dysplasia type 1: Potentially lethal skeletal dysplasia"],"prefix":"10.1111","volume":"56","author":[{"given":"Shinkai","family":"Inoue","sequence":"first","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"},{"name":"Division of Neonatology Center for Maternal, Fetal and Neonatal Medicine Fukuoka University Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goro","family":"Shirotani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Tsutsumi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"},{"name":"Division of Neonatology Center for Maternal, Fetal and Neonatal Medicine Fukuoka University Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Ohta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"},{"name":"Division of Neonatology Center for Maternal, Fetal and Neonatal Medicine Fukuoka University Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masatoshi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"},{"name":"Division of Neonatology Center for Maternal, Fetal and Neonatal Medicine Fukuoka University Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiko","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"},{"name":"Division of Neonatology Center for Maternal, Fetal and Neonatal Medicine Fukuoka University Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takahito","family":"Inoue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Ogawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fukuoka University Chikushi Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Hirose","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Fukuoka University  Fukuoka Japan"},{"name":"Division of Neonatology Center for Maternal, Fetal and Neonatal Medicine Fukuoka University Hospital  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,24]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"573","article-title":"Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs","volume":"23","author":"Desbuquois G","year":"1966","journal-title":"Arch. 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