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Occipital myelomeningocele

MedGen UID:
870466
Concept ID:
C4024912
Disease or Syndrome
HPO: HP:0007271

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOccipital myelomeningocele

Conditions with this feature

Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.

Professional guidelines

PubMed

Warf BC, Weber DS, Day EL, Riordan CP, Staffa SJ, Baird LC, Fehnel KP, Stone SSD
J Neurosurg Pediatr 2023 Aug 1;32(2):201-213. Epub 2023 May 12 doi: 10.3171/2023.4.PEDS2310. PMID: 37178026
Jeanty P, Shah D, Zaleski W, Ulm J, Fleischer A
Am J Perinatol 1991 Mar;8(2):144-9. doi: 10.1055/s-2007-999364. PMID: 2006942
Seller MJ
J Med Genet 1975 Mar;12(1):109-10. doi: 10.1136/jmg.12.1.109. PMID: 47393Free PMC Article

Recent clinical studies

Etiology

Mufti N, Aertsen M, Ebner M, Fidon L, Patel P, Rahman MBA, Brackenier Y, Ekart G, Fernandez V, Vercauteren T, Ourselin S, Thomson D, De Catte L, Demaerel P, Deprest J, David AL, Melbourne A
Neuroradiology 2021 Oct;63(10):1721-1734. Epub 2021 May 1 doi: 10.1007/s00234-021-02725-8. PMID: 33934181Free PMC Article
Cavalheiro S, Silva da Costa MD, Nicácio JM, Dastoli PA, Capraro Suriano I, Barbosa MM, Milani HJ, Pereira Sarmento SG, Carbonari de Faria TC, Moron AF
J Neurosurg Pediatr 2020 Sep 11;26(6):605-612. doi: 10.3171/2020.3.PEDS19613. PMID: 32916650
Flanders TM, Heuer GG, Madsen PJ, Buch VP, Mackell CM, Alexander EE, Moldenhauer JS, Zarnow DM, Flake AW, Adzick NS
Neurosurgery 2020 May 1;86(5):637-645. doi: 10.1093/neuros/nyz302. PMID: 31432079
Sanz Cortes M, Torres P, Yepez M, Guimaraes C, Zarutskie A, Shetty A, Hsiao A, Pyarali M, Davila I, Espinoza J, Shamshirsaz AA, Nassr A, Whitehead W, Lee W, Belfort MA
Ultrasound Obstet Gynecol 2020 Jan;55(1):87-95. doi: 10.1002/uog.20373. PMID: 31219638
Kim E, Cucchiaro G
J Child Neurol 2019 Oct;34(11):674-678. Epub 2019 Jun 6 doi: 10.1177/0883073819853079. PMID: 31167597

Diagnosis

Cavalheiro S, da Costa MDS, Barbosa MM, Suriano IC, Ottaiano AC, de Andrade Lourenção Freddi T, Ferreira NPFD, Kusano CU, Dastoli PA, Nicácio JM, Sarmento SGP, Moron AF
Childs Nerv Syst 2023 Oct;39(10):2899-2927. Epub 2023 Aug 22 doi: 10.1007/s00381-023-06109-6. PMID: 37606832
Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM
Am J Med Genet A 2023 Mar;191(3):730-741. Epub 2022 Dec 7 doi: 10.1002/ajmg.a.63067. PMID: 36478354
Singh BK, Maria A, Bandyopadhyay T, Choudhary SK
J Matern Fetal Neonatal Med 2022 Dec;35(25):7052-7057. Epub 2021 Jun 13 doi: 10.1080/14767058.2021.1937102. PMID: 34121591
Sirico A, Raffone A, Lanzone A, Saccone G, Travaglino A, Sarno L, Rizzo G, Zullo F, Maruotti GM
Arch Gynecol Obstet 2020 Feb;301(2):333-340. Epub 2019 Dec 24 doi: 10.1007/s00404-019-05422-3. PMID: 31875250
Kim E, Cucchiaro G
J Child Neurol 2019 Oct;34(11):674-678. Epub 2019 Jun 6 doi: 10.1177/0883073819853079. PMID: 31167597

Therapy

Warf BC, Weber DS, Day EL, Riordan CP, Staffa SJ, Baird LC, Fehnel KP, Stone SSD
J Neurosurg Pediatr 2023 Aug 1;32(2):201-213. Epub 2023 May 12 doi: 10.3171/2023.4.PEDS2310. PMID: 37178026
Kim E, Cucchiaro G
J Child Neurol 2019 Oct;34(11):674-678. Epub 2019 Jun 6 doi: 10.1177/0883073819853079. PMID: 31167597
Tan LA, Kasliwal MK, Moftakhar R, Munoz LF
J Neurosurg Pediatr 2014 Sep;14(3):234-7. Epub 2014 Jul 4 doi: 10.3171/2014.6.PEDS1418. PMID: 24995817
Filly MR, Filly RA, Barkovich AJ, Goldstein RB
J Ultrasound Med 2010 Feb;29(2):243-8. doi: 10.7863/jum.2010.29.2.243. PMID: 20103795
Tuli S, O'Hayon B, Drake J, Clarke M, Kestle J
Neurosurgery 1999 Dec;45(6):1329-33; discussion 1333-5. doi: 10.1097/00006123-199912000-00012. PMID: 10598700

Prognosis

Mangano FT, Altaye M, Stevenson CB, Yuan W
AJNR Am J Neuroradiol 2022 Aug;43(8):1214-1221. Epub 2022 Jul 28 doi: 10.3174/ajnr.A7585. PMID: 35902125Free PMC Article
Singh BK, Maria A, Bandyopadhyay T, Choudhary SK
J Matern Fetal Neonatal Med 2022 Dec;35(25):7052-7057. Epub 2021 Jun 13 doi: 10.1080/14767058.2021.1937102. PMID: 34121591
Jamous MA, Daoud SS, Abu-Aqoulah AM
Am J Case Rep 2020 Apr 30;21:e922312. doi: 10.12659/AJCR.922312. PMID: 32350236Free PMC Article
Hale AT, Stanton AN, Zhao S, Haji F, Gannon SR, Arynchyna A, Wellons JC, Rocque BG, Naftel RP
J Neurosurg Pediatr 2019 Apr 19;24(1):41-46. doi: 10.3171/2019.2.PEDS18743. PMID: 31003223
Idowu OE, Balogun MM
Childs Nerv Syst 2014 Feb;30(2):327-30. Epub 2013 Aug 1 doi: 10.1007/s00381-013-2222-5. PMID: 23904039

Clinical prediction guides

Mangano FT, Altaye M, Stevenson CB, Yuan W
AJNR Am J Neuroradiol 2022 Aug;43(8):1214-1221. Epub 2022 Jul 28 doi: 10.3174/ajnr.A7585. PMID: 35902125Free PMC Article
Singh BK, Maria A, Bandyopadhyay T, Choudhary SK
J Matern Fetal Neonatal Med 2022 Dec;35(25):7052-7057. Epub 2021 Jun 13 doi: 10.1080/14767058.2021.1937102. PMID: 34121591
Cavalheiro S, Silva da Costa MD, Nicácio JM, Dastoli PA, Capraro Suriano I, Barbosa MM, Milani HJ, Pereira Sarmento SG, Carbonari de Faria TC, Moron AF
J Neurosurg Pediatr 2020 Sep 11;26(6):605-612. doi: 10.3171/2020.3.PEDS19613. PMID: 32916650
Piro E, Serra G, Schierz IAM, Giuffrè M, Corsello G
Ital J Pediatr 2020 May 24;46(1):72. doi: 10.1186/s13052-020-00836-1. PMID: 32448340Free PMC Article
Sanz Cortes M, Torres P, Yepez M, Guimaraes C, Zarutskie A, Shetty A, Hsiao A, Pyarali M, Davila I, Espinoza J, Shamshirsaz AA, Nassr A, Whitehead W, Lee W, Belfort MA
Ultrasound Obstet Gynecol 2020 Jan;55(1):87-95. doi: 10.1002/uog.20373. PMID: 31219638

Recent systematic reviews

Kunpalin Y, Richter J, Mufti N, Bosteels J, Ourselin S, De Coppi P, Thompson D, David AL, Deprest J
BJOG 2021 Jan;128(2):366-374. doi: 10.1111/1471-0528.16496. PMID: 32926566Free PMC Article
Sirico A, Raffone A, Lanzone A, Saccone G, Travaglino A, Sarno L, Rizzo G, Zullo F, Maruotti GM
Arch Gynecol Obstet 2020 Feb;301(2):333-340. Epub 2019 Dec 24 doi: 10.1007/s00404-019-05422-3. PMID: 31875250

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