{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T21:26:48Z","timestamp":1760909208644,"version":"3.40.5"},"reference-count":69,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T00:00:00Z","timestamp":1560211200000},"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":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0\u20132% versus 0.0206%, spina bifida 1\u20133% versus 0.0350%, and encephalocele 0\u20132% versus 0.0082% [Parker et al. (2010); <jats:italic>Birth Defects Research. Part A: Clinical and Molecular Teratology<\/jats:italic>, 88:1008\u20131016; Springett et al. (2015); <jats:italic>American Journal of Medical Genetics. Part A<\/jats:italic>, 167A:3062\u20133069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); <jats:italic>American Journal of Medical Genetics. Part A<\/jats:italic>, 167A:3062\u20133069]. We report the <jats:italic>third<\/jats:italic> published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts.<\/jats:p>","DOI":"10.1002\/ajmg.a.61255","type":"journal-article","created":{"date-parts":[[2019,6,11]],"date-time":"2019-06-11T13:18:53Z","timestamp":1560259133000},"page":"1642-1651","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4238-6856","authenticated-orcid":false,"given":"Michael","family":"Tobin","sequence":"first","affiliation":[{"name":"CPT, Medical Corps, US Army, PGY\u20101 Emergency Medicine Resident Madigan Army Medical Center, Joint Base Lewis\u2010McChord  Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh","family":"Gunaji","sequence":"additional","affiliation":[{"name":"LT, Medical Corps, US Navy F. Edward H\u00e9bert School of Medicine, Class of 2019, Uniformed Services University of the Health Sciences  Bethesda MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Walsh","sequence":"additional","affiliation":[{"name":"Laboratory Department LCDR, Medical Corps (FS), US Navy, PGY\u20105 Pathology Resident, Naval Medical Center  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guerard P.","family":"Grice","sequence":"additional","affiliation":[{"name":"Laboratory Department CAPT (Ret.), Medical Corps, US Navy, Naval Medical Center  San Diego California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,6,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000291570.63450.44"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23002"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.01.029"},{"issue":"2","key":"e_1_2_6_5_1","first-page":"253","article-title":"Co\u2010occurrence of neural tube defect, thoracal defect and Omphalocele: A rare case and review of the literature","volume":"26","author":"Aydin B. H.","year":"2015","journal-title":"Genetic Counseling"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1986"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9177-4"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199911113412006"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<79::AID-AJMG17>3.0.CO;2-R"},{"issue":"5","key":"e_1_2_6_10_1","first-page":"602","article-title":"A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart","volume":"107","author":"Cantrell J. R.","year":"1958","journal-title":"Surgery, Gynecology and Obstetrics"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2013.04.010"},{"key":"e_1_2_6_12_1","unstructured":"MMWR CDC Surveillance Summaries 1992 41 Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-81"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(07)60002-3"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1028-4559(09)60306-5"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1994.1230"},{"issue":"5","key":"e_1_2_6_17_1","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1542\/peds.111.S1.1146","article-title":"Do multivitamin supplements attenuate the risk for diabetes\u2010associated birth defects?","volume":"111","author":"Correa A.","year":"2003","journal-title":"Pediatrics"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(03)00374-9"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/1933719107309590"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199906)19:6<580::AID-PD583>3.0.CO;2-K"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/01443615.2013.834307"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-010-2701-7"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17484"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14791"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-neuro-062012-170354"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4892"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<171::AID-AJMG14>3.0.CO;2-R"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10143"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23079"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328348d99d"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<317::AID-AJMG13>3.0.CO;2-L"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.11.1615"},{"key":"e_1_2_6_33_1","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. (2018). McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University. Baltimore MD.https:\/\/omim.org\/."},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37495"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1117-3"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30772"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1289\/ehp.8221"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02843.x"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.016758"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.22.2593"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg014"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.4103\/0976-3147.63108"},{"key":"e_1_2_6_43_1","unstructured":"National Center for Biotechnology Information (NCBI) Bethesda (MD): National Library of Medicine (US) National Center for Biotechnology Information; [1988]. Available from:https:\/\/www.ncbi.nlm.nih.gov\/"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2010.09.066"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0463.2006.apm_325.x"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2012.05.021"},{"issue":"26","key":"e_1_2_6_47_1","first-page":"2582","article-title":"Cell\u2010free DNA analysis for noninvasive examination of trisomy","volume":"373","author":"Norton M. E.","year":"2015","journal-title":"New England Journal of Medicine"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182368a0e"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.073775"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20735"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80123-3"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.20134"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100826"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21662"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.03.010"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1657581"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2403"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.964"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-49"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1159\/000143431"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37355"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32297"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23070"},{"key":"e_1_2_6_64_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1989.tb02908.x"},{"key":"e_1_2_6_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90133-A"},{"key":"e_1_2_6_66_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.161.8.745"},{"key":"e_1_2_6_67_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-012-9545-3"},{"key":"e_1_2_6_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35438"},{"key":"e_1_2_6_69_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151586"},{"key":"e_1_2_6_70_1","doi-asserted-by":"publisher","DOI":"10.1038\/381238a0"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61255","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61255","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T06:27:13Z","timestamp":1694327233000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,11]]},"references-count":69,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1002\/ajmg.a.61255"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61255","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2019,6,11]]},"assertion":[{"value":"2018-11-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}