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Isolated exencephaly

MedGen UID:
991306
Concept ID:
CN312531
Disease or Syndrome
Synonym: isolated exencephaly
 
Monarch Initiative: MONDO:0035402
Orphanet: ORPHA563612

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated exencephaly

Professional guidelines

PubMed

Ciaramitaro P, Massimi L, Bertuccio A, Solari A, Farinotti M, Peretta P, Saletti V, Chiapparini L, Barbanera A, Garbossa D, Bolognese P, Brodbelt A, Celada C, Cocito D, Curone M, Devigili G, Erbetta A, Ferraris M, Furlanetto M, Gilanton M, Jallo G, Karadjova M, Klekamp J, Massaro F, Morar S, Parker F, Perrini P, Poca MA, Sahuquillo J, Stoodley M, Talamonti G, Triulzi F, Valentini MC, Visocchi M, Valentini L; International Experts Jury of the Chiari Syringomyelia Consensus Conference, Milan, November 11-13, 2019
Neurol Sci 2022 Feb;43(2):1327-1342. Epub 2021 Jun 15 doi: 10.1007/s10072-021-05347-3. PMID: 34129128
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Recent clinical studies

Etiology

Graham JM Jr
Birth Defects Res 2020 Jul 15;112(12):943-952. doi: 10.1002/bdr2.1696. PMID: 32686349
Noureldine MHA, Shimony N, Jallo GI, Groves ML
Childs Nerv Syst 2019 Oct;35(10):1853-1862. Epub 2019 Jul 24 doi: 10.1007/s00381-019-04309-7. PMID: 31342150
Pereira EAC, Oxenham M, Lam KS
Bone Joint J 2017 Jun;99-B(6):829-833. doi: 10.1302/0301-620X.99B6.BJJ-2016-1159.R1. PMID: 28566405
Donnelly JG
Crit Rev Clin Lab Sci 2001 Jun;38(3):183-223. doi: 10.1080/20014091084209. PMID: 11451208
Tein I, MacGregor DL
Arch Neurol 1985 Mar;42(3):291-3. doi: 10.1001/archneur.1985.04060030113019. PMID: 3919693

Diagnosis

Ciaramitaro P, Massimi L, Bertuccio A, Solari A, Farinotti M, Peretta P, Saletti V, Chiapparini L, Barbanera A, Garbossa D, Bolognese P, Brodbelt A, Celada C, Cocito D, Curone M, Devigili G, Erbetta A, Ferraris M, Furlanetto M, Gilanton M, Jallo G, Karadjova M, Klekamp J, Massaro F, Morar S, Parker F, Perrini P, Poca MA, Sahuquillo J, Stoodley M, Talamonti G, Triulzi F, Valentini MC, Visocchi M, Valentini L; International Experts Jury of the Chiari Syringomyelia Consensus Conference, Milan, November 11-13, 2019
Neurol Sci 2022 Feb;43(2):1327-1342. Epub 2021 Jun 15 doi: 10.1007/s10072-021-05347-3. PMID: 34129128
Foster MT, Moxon CA, Weir E, Sinha A
BMJ 2019 Sep 4;366:l5202. doi: 10.1136/bmj.l5202. PMID: 31484633
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Pereira EAC, Oxenham M, Lam KS
Bone Joint J 2017 Jun;99-B(6):829-833. doi: 10.1302/0301-620X.99B6.BJJ-2016-1159.R1. PMID: 28566405
Chen CP
Taiwan J Obstet Gynecol 2007 Sep;46(3):199-208. doi: 10.1016/S1028-4559(08)60021-2. PMID: 17962097

Therapy

Foster MT, Moxon CA, Weir E, Sinha A
BMJ 2019 Sep 4;366:l5202. doi: 10.1136/bmj.l5202. PMID: 31484633
Kalliora C, Mamoulakis C, Vasilopoulos E, Stamatiades GA, Kalafati L, Barouni R, Karakousi T, Abdollahi M, Tsatsakis A
Toxicol Appl Pharmacol 2018 May 1;346:58-75. Epub 2018 Mar 26 doi: 10.1016/j.taap.2018.03.025. PMID: 29596925Free PMC Article
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Tein I, MacGregor DL
Arch Neurol 1985 Mar;42(3):291-3. doi: 10.1001/archneur.1985.04060030113019. PMID: 3919693
Czeizel A
Am J Med Genet 1981;10(1):25-35. doi: 10.1002/ajmg.1320100105. PMID: 7294060

Prognosis

Kunpalin Y, Deprest J, Papastefanou I, Bredaki E, Sacco A, Russo F, Richter J, Jansen K, Ourselin S, De Coppi P, David AL, Ushakov F, De Catte L
Prenat Diagn 2021 Jul;41(8):957-964. Epub 2021 Apr 8 doi: 10.1002/pd.5945. PMID: 33834531Free PMC Article
Marinho M, Lourenço C, Nogueira R, Valente F
J Clin Ultrasound 2020 Nov;48(9):557-559. Epub 2020 Apr 24 doi: 10.1002/jcu.22848. PMID: 33031571
Ardıçlı B, Karaman A, Özyazıcı A, Zenciroğlu A, Okumuş N
Turk J Pediatr 2017;59(2):217-220. doi: 10.24953/turkjped.2017.02.019. PMID: 29276880
Pereira EAC, Oxenham M, Lam KS
Bone Joint J 2017 Jun;99-B(6):829-833. doi: 10.1302/0301-620X.99B6.BJJ-2016-1159.R1. PMID: 28566405
De Catte L, De Keersmaeker B, Claus F
Paediatr Drugs 2012 Jun 1;14(3):143-55. doi: 10.2165/11597030-000000000-00000. PMID: 22242843

Clinical prediction guides

Azab WA, Cavallo LM, Yousef W, Khan T, Solari D, Cappabianca P
Childs Nerv Syst 2022 Jun;38(6):1059-1067. Epub 2022 Feb 22 doi: 10.1007/s00381-022-05467-x. PMID: 35192025
Chu DI, Kayle M, Stern A, Bowen DK, Yerkes EB, Holmbeck GN
J Urol 2022 Jan;207(1):192-200. Epub 2021 Aug 27 doi: 10.1097/JU.0000000000002204. PMID: 34448629Free PMC Article
Talamonti G, Marcati E, Gribaudi G, Picano M, D'Aliberti G
Childs Nerv Syst 2020 May;36(5):899-909. Epub 2020 Feb 13 doi: 10.1007/s00381-020-04540-7. PMID: 32055974
Heinke D, Nestoridi E, Hernandez-Diaz S, Williams PL, Rich-Edwards JW, Lin AE, Van Bennekom CM, Mitchell AA, Nembhard WN, Fretts RC, Roberts DJ, Duke CW, Carmichael SL, Yazdy MM; National Birth Defects Prevention Study
Obstet Gynecol 2020 Jan;135(1):133-140. doi: 10.1097/AOG.0000000000003614. PMID: 31809437Free PMC Article
Pereira EAC, Oxenham M, Lam KS
Bone Joint J 2017 Jun;99-B(6):829-833. doi: 10.1302/0301-620X.99B6.BJJ-2016-1159.R1. PMID: 28566405

Recent systematic reviews

Parida MK, Pattanaik SS, Panda AK, Das BK, Tripathy SR
Clin Rheumatol 2023 Jan;42(1):261-268. Epub 2022 Aug 22 doi: 10.1007/s10067-022-06332-7. PMID: 35994178
Villalonga JF, Pilonieta M, Revuelta Barbero JM, Carrau RL, Prevedello DM
World Neurosurg 2019 Sep;129:45-48. Epub 2019 May 20 doi: 10.1016/j.wneu.2019.05.088. PMID: 31121377
Faloon M, Sahai N, Pierce TP, Dunn CJ, Sinha K, Hwang KS, Emami A
Clin Orthop Relat Res 2018 Jul;476(7):1506-1513. doi: 10.1007/s11999.0000000000000196. PMID: 29470234Free PMC Article
Hascoet J, Manunta A, Brochard C, Arnaud A, Damphousse M, Menard H, Kerdraon J, Journel H, Bonan I, Odent S, Fremond B, Siproudhis L, Gamé X, Peyronnet B; French Referral Network of Spina Bifida
Neurourol Urodyn 2017 Mar;36(3):557-564. Epub 2016 May 17 doi: 10.1002/nau.23025. PMID: 27187872
Khade P, Lemos RS, Toussaint LG
World Neurosurg 2013 Mar-Apr;79(3-4):558-67. Epub 2011 Nov 7 doi: 10.1016/j.wneu.2011.05.053. PMID: 22120374

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