{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:14:14Z","timestamp":1789532054008,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T00:00:00Z","timestamp":1709769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal\/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.63582","type":"journal-article","created":{"date-parts":[[2024,3,7]],"date-time":"2024-03-07T11:19:39Z","timestamp":1709810379000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<scp>LUMBAR syndrome\u2013OEIS<\/scp> complex overlap: A case series and review"],"prefix":"10.1002","volume":"194","author":[{"given":"L.","family":"Barrios","sequence":"first","affiliation":[{"name":"University of California\u2010Davis  Davis California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Chamlin","sequence":"additional","affiliation":[{"name":"Department of Dermatology Ann &amp; Robert H. Lurie Children's Hospital, Northwestern Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim M.","family":"Keppler\u2010Noreuil","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics &amp; Metabolism University of Wisconsin School of Medicine and Public Health  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. L.","family":"Rialon","sequence":"additional","affiliation":[{"name":"Department of Surgery, Division of Pediatric Surgery Texas Children's Hospital, Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Austin","sequence":"additional","affiliation":[{"name":"Department of Urology Texas Children's Hospital, Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Alhajjat","sequence":"additional","affiliation":[{"name":"Department of Surgery Ann &amp; Robert H. Lurie Children's Hospital, Northwestern Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Bowen","sequence":"additional","affiliation":[{"name":"Department of Urology Ann &amp; Robert H. Lurie Children's Hospital, Northwestern Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1991-1683","authenticated-orcid":false,"given":"Denise W.","family":"Metry","sequence":"additional","affiliation":[{"name":"Department of Dermatology Texas Children's Hospital, Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. H.","family":"Siegel","sequence":"additional","affiliation":[{"name":"Department of Dermatology, and by Courtesy, Pediatrics Stanford University, School of Medicine  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61847"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1916588117"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.15031"},{"key":"e_1_2_8_5_1","first-page":"265","article-title":"Bladder exstrophy with multiple associated malformations","volume":"35","author":"Gonzalez Martin M.","year":"1982","journal-title":"Archivos Espa\u00f1oles de Urolog\u00eda"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31691"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.05.027"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2001)9999:9999<00::AID-AJMG1094>3.0.CO;2-#"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38469"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62764"},{"key":"e_1_2_8_11_1","doi-asserted-by":"crossref","unstructured":"Metry D. Copp H. Rialon K.L. Iacobas I. Baselga E. Dobyns W.B. Drolet B. Frieden I.J. Garzon M. Haggstrom A. Hanson D. Hollenbach L. Keppler\u2010Noreuil K.M. Maheshwari M. Siegel D. Waseem S. Dias M. (2024).Consensus on diagnostic criteria for LUMBAR syndrome.submitted.","DOI":"10.1016\/j.jpeds.2024.114101"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2007.00496.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30176"},{"key":"e_1_2_8_14_1","article-title":"The coexistence of upper and lower body segmental infantile hemangiomas","volume":"3","author":"Shayegan L. 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