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Abnormal neural tube morphology

MedGen UID:
1620065
Concept ID:
C4531030
Anatomical Abnormality
HPO: HP:0410043

Definition

Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [from HPO]

Professional guidelines

PubMed

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Ross ME, Mason CE, Finnell RH
Birth Defects Res 2017 Jan 30;109(2):120-128. doi: 10.1002/bdra.23592. PMID: 27883265Free PMC Article
Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

Recent clinical studies

Etiology

Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Nikolopoulou E, Galea GL, Rolo A, Greene ND, Copp AJ
Development 2017 Feb 15;144(4):552-566. doi: 10.1242/dev.145904. PMID: 28196803Free PMC Article
Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306
Lew SM, Kothbauer KF
Pediatr Neurosurg 2007;43(3):236-48. doi: 10.1159/000098836. PMID: 17409793

Diagnosis

Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B5-B8. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.176. PMID: 33168213
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Hawasli AH, Beaumont TL, Vogel TW, Woo AS, Leonard JR
J Neurosurg Pediatr 2014 Aug;14(2):200-2. Epub 2014 Jun 13 doi: 10.3171/2014.5.PEDS13688. PMID: 24926969

Therapy

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Yamaguchi Y, Miyazawa H, Miura M
Congenit Anom (Kyoto) 2017 Sep;57(5):134-137. Epub 2017 May 31 doi: 10.1111/cga.12219. PMID: 28295633
Irwin RE, Pentieva K, Cassidy T, Lees-Murdock DJ, McLaughlin M, Prasad G, McNulty H, Walsh CP
Epigenomics 2016 Jun;8(6):863-79. Epub 2016 Jun 20 doi: 10.2217/epi-2016-0003. PMID: 27319574
Levine D
J Magn Reson Imaging 2006 Jul;24(1):1-15. doi: 10.1002/jmri.20608. PMID: 16736491

Prognosis

Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238Free PMC Article
Habibi Z, Nejat F, Tajik P, Kazmi SS, Kajbafzadeh AM
Neurosurgery 2006 Jun;58(6):1168-75; discussion 1168-75. doi: 10.1227/01.NEU.0000215955.18762.32. PMID: 16723896
Tubbs RS, Blount JP
Pediatr Neurosurg 2004 Mar-Apr;40(2):95-6. doi: 10.1159/000078919. PMID: 15292644
Blount JP, Elton S
Neurosurg Focus 2001 Jan 15;10(1):e3. doi: 10.3171/foc.2001.10.1.4. PMID: 16749755

Clinical prediction guides

Wittig JG, Münsterberg A
Cold Spring Harb Perspect Biol 2020 Aug 3;12(8) doi: 10.1101/cshperspect.a037218. PMID: 31767650Free PMC Article
Apaydin M
Surg Radiol Anat 2020 Feb;42(2):111-119. Epub 2019 Sep 19 doi: 10.1007/s00276-019-02341-5. PMID: 31538247
Zorrilla CD, García García I, García Fragoso L, De La Vega A
J Infect Dis 2017 Dec 16;216(suppl_10):S891-S896. doi: 10.1093/infdis/jix448. PMID: 29267916Free PMC Article
Wang L, Lin S, Yi D, Huang Y, Wang C, Jin L, Liu J, Zhang Y, Ren A
Birth Defects Res 2017 Nov 15;109(19):1596-1604. Epub 2017 Aug 8 doi: 10.1002/bdr2.1094. PMID: 28786179
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

Recent systematic reviews

Hazneci J, Bastacı F, Börekci A, Öztürk ÖÇ, İş M, Somay A, Ekşi MŞ, Çelikoğlu E
Childs Nerv Syst 2022 Oct;38(10):1977-1986. Epub 2022 Jun 10 doi: 10.1007/s00381-022-05578-5. PMID: 35687168
Nassr AA, Hessami K, Shazly SA, Meshinchi N, Corroenne R, Espinoza J, Donepudi R, Sanz Cortes M, Belfort MA, Shamshirsaz AA
Ultrasound Obstet Gynecol 2021 Sep;58(3):347-353. doi: 10.1002/uog.23588. PMID: 33428299
Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Bidondo MP, Groisman B, Tardivo A, Tomasoni F, Tejeiro V, Camacho I, Vilas M, Liascovich R, Barbero P
Birth Defects Res A Clin Mol Teratol 2016 Dec;106(12):993-1007. Epub 2016 Oct 5 doi: 10.1002/bdra.23549. PMID: 27704687

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