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Cervical spina bifida cystica

MedGen UID:
798909
•Concept ID:
CN202433
•
Finding
Synonym: cervical spina bifida cystica
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0017073
Orphanet: ORPHA268762

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCervical spina bifida cystica
Follow this link to review classifications for Cervical spina bifida cystica in Orphanet.

Recent clinical studies

Etiology

Autologous cell seeded biodegradable scaffold for augmentation cystoplasty: phase II study in children and adolescents with spina bifida.
Joseph DB, Borer JG, De Filippo RE, Hodges SJ, McLorie GA
J Urol 2014 May;191(5):1389-95. Epub 2013 Oct 29 doi: 10.1016/j.juro.2013.10.103. PMID: 24184366
Cervical spina bifida cystica: MRI differentiation of the subtypes in children.
Andronikou S, Wieselthaler N, Fieggen AG
Childs Nerv Syst 2006 Apr;22(4):379-84. Epub 2005 Jun 14 doi: 10.1007/s00381-005-1165-x. PMID: 15959736
Cystic spinal dysraphism of the cervical and upper thoracic region.
Salomão JF, Cavalheiro S, Matushita H, Leibinger RD, Bellas AR, Vanazzi E, de Souza LA, Nardi AG
Childs Nerv Syst 2006 Mar;22(3):234-42. Epub 2005 Jun 4 doi: 10.1007/s00381-005-1161-1. PMID: 15937687
Iniencephaly: neuroradiological and surgical features. Case report and review of the literature.
Erdinçler P, Kaynar MY, Canbaz B, Koçer N, Kuday C, Ciplak N
J Neurosurg 1998 Aug;89(2):317-20. doi: 10.3171/jns.1998.89.2.0317. PMID: 9688130
The nature of congenital posterior cervical or cervicothoracic midline cutaneous mass lesions. Report of eight cases.
Steinbok P, Cochrane DD
J Neurosurg 1991 Aug;75(2):206-12. doi: 10.3171/jns.1991.75.2.0206. PMID: 2072156

Diagnosis

Cervical myelomeningocele with CSF leakage: a case-based review.
Armas-Melián K, Iglesias S, Ros B, Martínez-León MI, Arráez MÁ
Childs Nerv Syst 2020 Nov;36(11):2615-2620. Epub 2020 Jul 4 doi: 10.1007/s00381-020-04743-y. PMID: 32621007
Cervicothoracic nonterminal myelocystocele with mature teratoma.
Gressot LV, Mohila CA, Jea A, Luerssen TG, Bollo RJ
J Neurosurg Pediatr 2014 Feb;13(2):204-8. Epub 2013 Dec 20 doi: 10.3171/2013.12.PEDS13408. PMID: 24359211
Prenatal ultrasound diagnosis of open spinal dysraphism in the cervical verterbrae. Case report.
Rădulescu M, Ulmeanu EC
Med Ultrason 2012 Sep;14(3):254-6. PMID: 22957334
Intradural spinal endoscopy in children.
Chern JJ, Gordon AS, Naftel RP, Tubbs RS, Oakes WJ, Wellons JC 3rd
J Neurosurg Pediatr 2011 Jul;8(1):107-11. doi: 10.3171/2011.4.PEDS10533. PMID: 21721897
Dysraphic lesions of the cervical spinal cord.
Steinbok P
Neurosurg Clin N Am 1995 Apr;6(2):367-76. PMID: 7620360

Therapy

Autologous cell seeded biodegradable scaffold for augmentation cystoplasty: phase II study in children and adolescents with spina bifida.
Joseph DB, Borer JG, De Filippo RE, Hodges SJ, McLorie GA
J Urol 2014 May;191(5):1389-95. Epub 2013 Oct 29 doi: 10.1016/j.juro.2013.10.103. PMID: 24184366

Prognosis

Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain.
Chaoui R, Benoit B, Heling KS, Kagan KO, Pietzsch V, Sarut Lopez A, Tekesin I, Karl K
Ultrasound Obstet Gynecol 2011 Dec;38(6):722-6. Epub 2011 Nov 11 doi: 10.1002/uog.10111. PMID: 21984530
Cystic spinal dysraphism of the cervical and upper thoracic region.
Salomão JF, Cavalheiro S, Matushita H, Leibinger RD, Bellas AR, Vanazzi E, de Souza LA, Nardi AG
Childs Nerv Syst 2006 Mar;22(3):234-42. Epub 2005 Jun 4 doi: 10.1007/s00381-005-1161-1. PMID: 15937687
Iniencephaly: neuroradiological and surgical features. Case report and review of the literature.
Erdinçler P, Kaynar MY, Canbaz B, Koçer N, Kuday C, Ciplak N
J Neurosurg 1998 Aug;89(2):317-20. doi: 10.3171/jns.1998.89.2.0317. PMID: 9688130
Dysraphic lesions of the cervical spinal cord.
Steinbok P
Neurosurg Clin N Am 1995 Apr;6(2):367-76. PMID: 7620360
The nature of congenital posterior cervical or cervicothoracic midline cutaneous mass lesions. Report of eight cases.
Steinbok P, Cochrane DD
J Neurosurg 1991 Aug;75(2):206-12. doi: 10.3171/jns.1991.75.2.0206. PMID: 2072156

Clinical prediction guides

Effect of cervical and lumbosacral spina bifida cystica on volumes of intracranial structures in children.
Yiğit H, Güler H, Yılmaz H, Gümü ÜÖ, Karaman ZF, Güneş T
Childs Nerv Syst 2024 Feb;40(2):527-535. Epub 2023 Sep 12 doi: 10.1007/s00381-023-06153-2. PMID: 37698650
Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain.
Chaoui R, Benoit B, Heling KS, Kagan KO, Pietzsch V, Sarut Lopez A, Tekesin I, Karl K
Ultrasound Obstet Gynecol 2011 Dec;38(6):722-6. Epub 2011 Nov 11 doi: 10.1002/uog.10111. PMID: 21984530
Myelomeningocele before birth.
Osaka K, Tanimura T, Hirayama A, Matsumoto S
J Neurosurg 1978 Nov;49(5):711-24. doi: 10.3171/jns.1978.49.5.0711. PMID: 712393

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