{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T00:26:11Z","timestamp":1791419171848,"version":"4.3.3"},"reference-count":47,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"crossref","award":["SFB1315"],"award-info":[{"award-number":["SFB1315"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"crossref","award":["FG3004"],"award-info":[{"award-number":["FG3004"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Sonnenfeld-Stiftung and Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Spina bifida (SB) is an umbrella term for multiple conditions characterized by misclosure of vertebral arches. Neuropathologic findings in SB cases are often reported with imprecise and overlapping terminology. In view of the increasing identification of SB-associated genes and pathomechanisms, the precise description of SB subtypes is highly important. In particular, the term \u201cmyelomeningocele\u201d is applied to various and divergent SB subtypes. We reevaluated 90 cases with SB (58 prenatal; 32 postnatal). The most frequent SB phenotype in our cohort was myeloschisis, which is characterized by an open neural plate with exposed ependyma (n\u2009=\u200928; 31.1%). An open neural plate was initially described in only in two-thirds of the myeloschisis cases. An additional 21 cases (23.3%) had myelomeningocele; 2 cases (2.2%) had a meningocele; and 21 cases (23.3%) had an unspecified SB aperta (SBA) subtype. Overall, the SB phenotype was corrected in about one-third of the cases. Our findings highlight that \u201cmyelomeningocele\u201d and \u201cSB aperta\u201d cannot be used as synonymous terms and that myeloschisis is an underreported SB phenotype. Based on our findings and a review of literature we propose a classification of SB subtypes in SB occulta and the 3 SBA subtypes, meningocele, myelomeningocele, and myeloschisis.<\/jats:p>","DOI":"10.1093\/jnen\/nlab007","type":"journal-article","created":{"date-parts":[[2021,2,13]],"date-time":"2021-02-13T00:55:51Z","timestamp":1613177751000},"page":"294-305","source":"Crossref","is-referenced-by-count":23,"title":["Systematic Classification of Spina Bifida"],"prefix":"10.1093","volume":"80","author":[{"given":"Kim Hannah","family":"Schindelmann","sequence":"first","affiliation":[{"name":"From the Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Institute of Cellbiology and Neurobiology , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Paschereit","sequence":"additional","affiliation":[{"name":"From the Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Institute of Cellbiology and Neurobiology , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Steege","sequence":"additional","affiliation":[{"name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Institute of Pathology , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Stoltenburg-Didinger","sequence":"additional","affiliation":[{"name":"From the Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Institute of Cellbiology and Neurobiology , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela M","family":"Kaindl","sequence":"additional","affiliation":[{"name":"From the Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Institute of Cellbiology and Neurobiology , Berlin, Germany"},{"name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Institute of Pathology , Berlin, Germany"},{"name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, Department of Pediatric Neurology , Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,2,12]]},"reference":[{"key":"2024032523383481700_nlab007-B1"},{"key":"2024032523383481700_nlab007-B2","doi-asserted-by":"crossref","first-page":"h5949","DOI":"10.1136\/bmj.h5949","article-title":"Long term trends in prevalence of neural tube defects in Europe: Population based study","volume":"351","author":"Khoshnood","year":"2015","journal-title":"BMJ"},{"key":"2024032523383481700_nlab007-B3","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S1474-4422(13)70110-8","article-title":"Neural tube defects: Recent advances, unsolved questions, and controversies","volume":"12","author":"Copp","year":"2013","journal-title":"Lancet Neurol"},{"key":"2024032523383481700_nlab007-B4","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-642-73697-1","volume-title":"Developmental neuropathology. 2nd rev. and expanded ed","author":"Friede","year":"1989"},{"key":"2024032523383481700_nlab007-B5","volume-title":"Disorders of the Spinal Cord in Children","author":"Pike","year":"2013"},{"key":"2024032523383481700_nlab007-B6","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2017\/5364827","article-title":"Spina bifida: Pathogenesis, mechanisms, and genes in mice and humans","volume":"2017","author":"Mohd-Zin","year":"2017","journal-title":"Scientifica (Cairo)"},{"key":"2024032523383481700_nlab007-B7","volume-title":"Developmental neuropathology","author":"Golden","year":"2004"},{"key":"2024032523383481700_nlab007-B8","doi-asserted-by":"crossref","first-page":"15007","DOI":"10.1038\/nrdp.2015.7","article-title":"Spina bifida","volume":"1","author":"Copp","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"2024032523383481700_nlab007-B9","volume-title":"Histopathology","author":"Avagliano","year":"2016"},{"key":"2024032523383481700_nlab007-B10","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1002\/bdr2.1380","article-title":"Overview on neural tube defects: From development to physical characteristics","volume":"111","author":"Avagliano","year":"2019","journal-title":"Birth Defects Res"},{"key":"2024032523383481700_nlab007-B11","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/path.1711100110","article-title":"The local cord lesion in neurospinal dysraphism (meningomyelocele)","volume":"110","author":"Emery","year":"1973","journal-title":"J Pathol"},{"key":"2024032523383481700_nlab007-B12","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1136\/jnnp.33.2.251","article-title":"\u2018Meningoceles\u2019 and \u2018meningomyeloceles\u2019 (ectopic spinal cord). Clinicopathological basis of a new classification","volume":"33","author":"Talwalker","year":"1970","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2024032523383481700_nlab007-B13","doi-asserted-by":"crossref","first-page":"1641","DOI":"10.1007\/s00381-015-2845-9","article-title":"A practical clinical classification of spinal neural tube defects","volume":"31","author":"McComb","year":"2015","journal-title":"Childs Nerv Syst"},{"key":"2024032523383481700_nlab007-B14","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1111\/j.1600-0463.2006.apm_325.x","article-title":"Neural tube defects and associated anomalies in a fetal and perinatal autopsy series","volume":"114","author":"Nielsen","year":"2006","journal-title":"APMIS"},{"key":"2024032523383481700_nlab007-B15","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1007\/s00381-011-1560-4","article-title":"Congenital hydrocephalus associated with myeloschisis","volume":"27","author":"Jeelani","year":"2011","journal-title":"Childs Nerv Syst"},{"key":"2024032523383481700_nlab007-B16","author":"Essbach","year":"1961"},{"key":"2024032523383481700_nlab007-B17","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1007\/s00381-013-2189-2","article-title":"Limited dorsal myeloschisis: A not-so-rare form of primary neurulation defect","volume":"29","author":"Pang","year":"2013","journal-title":"Childs Nerv Syst"},{"key":"2024032523383481700_nlab007-B18","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.2214\/AJR.18.20088","article-title":"Myelomeningocele versus myelocele on fetal MR images: Are there differences in brain findings?","volume":"211","author":"Nagaraj","year":"2018","journal-title":"Am J Roentgenol"},{"key":"2024032523383481700_nlab007-B19","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1002\/uog.21891","article-title":"Myelomeningocele sac associated with worse lower-extremity neurological sequelae: Evidence for prenatal neural stretch injury?","volume":"55","author":"Oliver","year":"2020","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2024032523383481700_nlab007-B20","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1002\/uog.3865","article-title":"Prenatal diagnosis of open and closed spina bifida","volume":"28","author":"Ghi","year":"2006","journal-title":"Ultrasound Obstet Gynecol"},{"key":"2024032523383481700_nlab007-B21","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1515\/JPM.2008.052","article-title":"Comparison of six sonographic signs in the prenatal diagnosis of spina bifida","volume":"36","author":"D'Addario","year":"2008","journal-title":"J Perinat Med"},{"key":"2024032523383481700_nlab007-B22","doi-asserted-by":"crossref","first-page":"4571","DOI":"10.1007\/s00330-017-4807-y","article-title":"Evolution of posterior fossa and brain morphology after in utero repair of open neural tube defects assessed by MRI","volume":"27","author":"Rethmann","year":"2017","journal-title":"Eur Radiol"},{"key":"2024032523383481700_nlab007-B23","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1055\/s-0043-103459","article-title":"Fetal pathology of neural tube defects\u2014An overview of 68 cases","volume":"77","author":"Schoner","year":"2017","journal-title":"Geburtshilfe Frauenheilkd"},{"key":"2024032523383481700_nlab007-B24","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1159\/000363182","article-title":"Fetal myelomeningocele closure: Technical considerations","volume":"37","author":"Heuer","year":"2015","journal-title":"Fetal Diagn Ther"},{"key":"2024032523383481700_nlab007-B25","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.3174\/ajnr.A5116","article-title":"Hindbrain herniation in Chiari II malformation on fetal and postnatal MRI","volume":"38","author":"Nagaraj","year":"2017","journal-title":"Am J Neuroradiol"},{"key":"2024032523383481700_nlab007-B26","first-page":"151","article-title":"Detection of spina bifida by first trimester screening\u2014Results of the prospective multicenter Berlin IT-study","volume":"38","author":"Chen","year":"2017","journal-title":"Ultraschall Med"},{"key":"2024032523383481700_nlab007-B27","article-title":"First-trimester cranial ultrasound markers of open spina bifida","author":"Zhu","year":"2020","journal-title":"J Ultrasound Med"},{"key":"2024032523383481700_nlab007-B28","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1007\/s00404-019-05422-3","article-title":"First trimester detection of fetal open spina bifida using BS\/BSOB ratio","volume":"301","author":"Sirico","year":"2020","journal-title":"Arch Gynecol Obstet"},{"key":"2024032523383481700_nlab007-B29","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.3109\/14767058.2015.1085967","article-title":"Prospective sonographic detection of spina bifida at 11\u201314 weeks and systematic literature review","volume":"29","author":"Orlandi","year":"2016","journal-title":"J Matern Fetal Neonatal Med"},{"key":"2024032523383481700_nlab007-B30","doi-asserted-by":"crossref","first-page":"256.e251","DOI":"10.1016\/j.ajog.2017.12.001","article-title":"The management of myelomeningocele study: Full cohort 30-month pediatric outcomes","volume":"218","author":"Farmer","year":"2018","journal-title":"Am J Obstet Gynecol"},{"key":"2024032523383481700_nlab007-B31","doi-asserted-by":"crossref","first-page":"W956","DOI":"10.2214\/AJR.11.6745","article-title":"Fetal spine findings on MRI and associated outcomes in children with open neural tube defects","volume":"197","author":"Chao","year":"2011","journal-title":"Am J Roentgenol"},{"key":"2024032523383481700_nlab007-B32","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s003810000439","article-title":"Cerebral abnormalities in lumbosacral neural tube closure defect: MR imaging evaluation","volume":"17","author":"Kawamura","year":"2001","journal-title":"Childs Nerv Syst"},{"key":"2024032523383481700_nlab007-B33","article-title":"Brain malformations and cognitive performance in spina bifida","author":"Schneider","year":"2020","journal-title":"Dev Med Child Neurol"},{"key":"2024032523383481700_nlab007-B34","doi-asserted-by":"crossref","first-page":"289","DOI":"10.3171\/2011.6.PEDS10584","article-title":"Hydrocephalus status in spina bifida: An evaluation of variations in neuropsychological outcomes","volume":"8","author":"Hampton","year":"2011","journal-title":"J Neurosurg Pediatr"},{"key":"2024032523383481700_nlab007-B35","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.ejpn.2009.01.003","article-title":"Motor profile and cognitive functioning in children with spina bifida","volume":"14","author":"Vinck","year":"2010","journal-title":"Eur J Paediatr Neurol"},{"key":"2024032523383481700_nlab007-B36","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1007\/s00381-010-1368-7","article-title":"Cognitive and functional outcome in spina bifida-Chiari II malformation","volume":"27","author":"Jenkinson","year":"2011","journal-title":"Childs Nerv Syst"},{"key":"2024032523383481700_nlab007-B37","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1002\/path.1700730124","article-title":"The Arnold-Chiari and other neuro-anatomical malformations associated with spina bifida","volume":"73","author":"Cameron","year":"1957","journal-title":"J Pathol Bacteriol"},{"key":"2024032523383481700_nlab007-B38","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1227\/00006123-198605000-00008","article-title":"Central nervous system anomalies associated with meningomyelocele, hydrocephalus, and the Arnold-Chiari malformation: Reappraisal of theories regarding the pathogenesis of posterior neural tube closure defects","volume":"18","author":"Gilbert","year":"1986","journal-title":"Neurosurgery"},{"key":"2024032523383481700_nlab007-B39","first-page":"314","article-title":"Dimyelia, disastematomyelia, and diplomyelia","volume":"7","author":"Hori","year":"1988","journal-title":"Clin Neuropathol"},{"key":"2024032523383481700_nlab007-B40","doi-asserted-by":"crossref","first-page":"2864","DOI":"10.1242\/dev.119768","article-title":"Neuromesodermal progenitors and the making of the spinal cord","volume":"142","author":"Henrique","year":"2015","journal-title":"Development"},{"key":"2024032523383481700_nlab007-B41","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/pd.1378","article-title":"Postmortem evaluation of 220 prenatally diagnosed fetuses with neural tube defects: Detection of associated anomalies in a Turkish population","volume":"26","author":"Ceylaner","year":"2006","journal-title":"Prenat Diagn"},{"key":"2024032523383481700_nlab007-B42","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1002\/bdra.20062","article-title":"Neural tube defects and associated anomalies in South Carolina","volume":"70","author":"Stevenson","year":"2004","journal-title":"Birth Defect Res A"},{"key":"2024032523383481700_nlab007-B43","doi-asserted-by":"crossref","first-page":"2244","DOI":"10.1002\/ajmg.a.37168","article-title":"When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina","volume":"167","author":"Bupp","year":"2015","journal-title":"Am J Med Genet A"},{"key":"2024032523383481700_nlab007-B44","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/(SICI)1096-9926(199802)57:2<56::AID-TERA3>3.0.CO;2-4","article-title":"Associated malformations in infants and fetuses with upper or lower neural tube defects","volume":"57","author":"Kallen","year":"1998","journal-title":"Teratology"},{"key":"2024032523383481700_nlab007-B45","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.3109\/00016349.2010.512062","article-title":"Prenatal course and outcome in 103 cases of fetal spina bifida: A single center experience","volume":"89","author":"Amari","year":"2010","journal-title":"Acta Obstet Gynecol Scand"},{"key":"2024032523383481700_nlab007-B46","doi-asserted-by":"crossref","first-page":"798","DOI":"10.3109\/14767058.2015.1019456","article-title":"Associated anomalies with neural tube defects in fetal autopsies","volume":"29","author":"Toru","year":"2016","journal-title":"J Matern Fetal Neonatal Med"},{"key":"2024032523383481700_nlab007-B47","doi-asserted-by":"crossref","first-page":"156","DOI":"10.3109\/01443615.2013.834307","article-title":"Chromosomal and structural anomalies in fetuses with open neural tube defects","volume":"34","author":"Ekin","year":"2014","journal-title":"J Obstet Gynaecol"}],"container-title":["Journal of Neuropathology &amp; Experimental Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jnen\/article-pdf\/80\/4\/294\/36664110\/nlab007.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jnen\/article-pdf\/80\/4\/294\/36664110\/nlab007.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,26]],"date-time":"2024-03-26T00:02:30Z","timestamp":1711411350000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jnen\/article\/80\/4\/294\/6133912"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,12]]},"references-count":47,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,2,12]]},"published-print":{"date-parts":[[2021,3,22]]}},"URL":"https:\/\/doi.org\/10.1093\/jnen\/nlab007","relation":{},"ISSN":["0022-3069","1554-6578"],"issn-type":[{"value":"0022-3069","type":"print"},{"value":"1554-6578","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,4,1]]},"published":{"date-parts":[[2021,2,12]]}}}