{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:04:43Z","timestamp":1762506283508,"version":"3.37.3"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T00:00:00Z","timestamp":1395187200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>The association between encephalocele and radial defects is considered uncommon. These features have been occasionally described separately in certain recurrent conditions such as VACTERL association, oculo\u2010auriculo\u2010vertebral spectrum and Edwards syndrome (trisomy 18). DK\u2010phocomelia is a rare syndrome characterized by both findings. However, Froster\u2010Iskenius and Meinecke [1992, <jats:italic>Clin Dysmorphol<\/jats:italic> 1: 37\u201341] and Kunze et al. [1992, <jats:italic>Eur J Pediatr<\/jats:italic> 151: 467\u2013468] reported patients presenting similar malformations. We proposed, through the description of an additional case, that these last patients present the same condition and thus represent a new syndrome. The fetus presented a cranial vault deformity associated with an exuberant herniation of brain content, compatible with occipital encephalocele. Other uncommon features were also identified: microtia of the left ear with atresia of the external auditory canal; radial defect with aplasia of left radius and thumb; findings suggestive of a congenital heart defect and esophageal atresia; hypoplastic lungs and adrenals; thoracolumbar scoliosis; atrophic right kidney; and single umbilical artery. Thus, based on our review, we believe that these patients represent a new condition characterized by encephalocele and radial defects associated with multiple malformations. We propose, that the name \u201cEncephalocele\u2013radial, cardiac, gastrointestinal, anal\/renal anomalies,\u201d as suggested by the London Medical Database, or even the name, \u201cFroster\u2010Iskenius and Meinecke syndrome\u201d should be used to indicate these cases. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36426","type":"journal-article","created":{"date-parts":[[2014,3,19]],"date-time":"2014-03-19T19:27:44Z","timestamp":1395257264000},"page":"1085-1091","source":"Crossref","is-referenced-by-count":2,"title":["Encephalocele\u2014radial, cardiac, gastrointestinal, anal\/renal anomalies: Novel evidence for a new condition?"],"prefix":"10.1002","volume":"164","author":[{"given":"Carolina M.","family":"Valdez","sequence":"first","affiliation":[{"name":"Department of Ginecology and Obstetrics Hospital Materno Infantil Presidente Vargas (HMIPV) Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan P.L.","family":"Altmayer","sequence":"additional","affiliation":[{"name":"Department of Medicine Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA) Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"McArthur A.","family":"Barrow","sequence":"additional","affiliation":[{"name":"Department of Medicine Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA) Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge A.B.","family":"Telles","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine HMIPV Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosilene da S.","family":"Betat","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine HMIPV Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7628-4877","authenticated-orcid":false,"given":"Paulo R.G.","family":"Zen","sequence":"additional","affiliation":[{"name":"Department of Pathology UFCSPA Porto Alegre RS Brazil"},{"name":"Department of Clinical Genetics Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA) Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael F.M.","family":"Rosa","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine HMIPV Porto Alegre RS Brazil"},{"name":"Department of Pathology UFCSPA Porto Alegre RS Brazil"},{"name":"Department of Clinical Genetics Universidade Federal de Ci\u00eancias da Sa\u00fade de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA) Porto Alegre RS Brazil"},{"name":"Department of Clinical Genetics HMIPV Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043257"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<408::AID-AJMG7>3.0.CO;2-J"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450115"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20593"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)91925-X"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31290"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36153"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199201000-00006"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20643"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959368"},{"key":"e_1_2_4_12_1","unstructured":"LMD 2010 Oxford University Press Oxford UK"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520305"},{"key":"e_1_2_4_14_1","first-page":"967","article-title":"von Voss\u2010Cherstvoy syndrome","volume":"39","author":"Managoli S","year":"2002","journal-title":"Indian Pediatr"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100339"},{"key":"e_1_2_4_16_1","unstructured":"OMIM.2007. 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