{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T21:10:48Z","timestamp":1770844248858,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,3,25]],"date-time":"2015-03-25T00:00:00Z","timestamp":1427241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ierre <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>obin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of <jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>ager syndrome and <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ierre <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>obin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with <jats:styled-content style=\"fixed-case\">N<\/jats:styled-content>ager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ierre <jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>obin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.<\/jats:p>","DOI":"10.1111\/ped.12562","type":"journal-article","created":{"date-parts":[[2015,3,26]],"date-time":"2015-03-26T03:47:47Z","timestamp":1427341667000},"source":"Crossref","is-referenced-by-count":9,"title":["Nager syndrome and <scp>P<\/scp>ierre <scp>R<\/scp>obin sequence"],"prefix":"10.1111","volume":"57","author":[{"given":"Rafael Fabiano Machado","family":"Rosa","sequence":"first","affiliation":[{"name":"Clinical Genetics Hospital Materno Infantil Presidente Vargas (HMIPV)  Porto Alegre Brazil"},{"name":"Department of Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  Porto Alegre Brazil"},{"name":"Clinical Genetics UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vict\u00f3ria Bernardes","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Department of Medicine UFCSPA  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana Amorim","family":"Beltr\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Medicine UFCSPA  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00falia Santana","family":"Trombetta","sequence":"additional","affiliation":[{"name":"Department of Medicine UFCSPA  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen Lizeth","family":"Puma Lliguin","sequence":"additional","affiliation":[{"name":"Department of Medicine UFCSPA  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinicius Freitas","family":"de Mattos","sequence":"additional","affiliation":[{"name":"Clinical Genetics UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Ricardo Gazzola","family":"Zen","sequence":"additional","affiliation":[{"name":"Department of Pathology Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA)  Porto Alegre Brazil"},{"name":"Clinical Genetics UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2011.02.053"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<301::AID-AJMG5>3.0.CO;2-J"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.004"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.09.007"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215111002738"},{"key":"e_1_2_5_7_1","first-page":"45","article-title":"A case report: Nager acrofacial dysostosis","volume":"24","author":"Abdollahj Fakhim S","year":"2012","journal-title":"Iran. 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