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The facial dysmorphism, joint contracture, distinctive skeletal changes, and myotonic discharges on electromyogram raised a suspicion of the rare autosomal recessive syndrome, which was later confirmed on molecular analysis of <jats:italic>leukemia inhibitory factor receptor<\/jats:italic>. She developed recurrent attacks of hyperpyrexia and died at age 3\u2009months.<\/jats:p>","DOI":"10.1111\/ped.12431","type":"journal-article","created":{"date-parts":[[2015,4,14]],"date-time":"2015-04-14T02:58:05Z","timestamp":1428980285000},"page":"302-304","source":"Crossref","is-referenced-by-count":4,"title":["<scp>S<\/scp>t\u00fcve\u2013<scp>W<\/scp>iedemann syndrome in a neonate"],"prefix":"10.1111","volume":"57","author":[{"given":"Kosmas","family":"Sarafidis","sequence":"first","affiliation":[{"name":"1st Department of Neonatology Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaliopi","family":"Piretzi","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Agakidou","sequence":"additional","affiliation":[{"name":"1st Department of Neonatology Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[{"name":"Center for Human Genetics  Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitrios","family":"Zafeiriou","sequence":"additional","affiliation":[{"name":"1st Department of Pediatrics Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,4,13]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/381715"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.3.203"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050464"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO;2-M"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200301000-00001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32325"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.04.001"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-34"},{"key":"e_1_2_5_10_1","first-page":"35","article-title":"Case report of prenatal diagnosis of St\u00fcve\u2010Wiedemann Syndrome in a woman with another child affected too","volume":"7","author":"Catavorello A","year":"2013","journal-title":"J. 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