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Upper thoracic spina bifida cystica

MedGen UID:
799069
•Concept ID:
CN202435
•
Finding
Synonym: upper thoracic 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:0017075
Orphanet: ORPHA268770

Term Hierarchy

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

Recent clinical studies

Etiology

Prevalence of supratentorial anomalies assessed by magnetic resonance imaging in fetuses with open spina bifida.
Trigo L, Eixarch E, Bottura I, Dalaqua M, Barbosa AA, De Catte L, Demaerel P, Dymarkowski S, Deprest J, Lapa DA, Aertsen M, Gratacos E
Ultrasound Obstet Gynecol 2022 Jun;59(6):804-812. doi: 10.1002/uog.23761. PMID: 34396624
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
Upper and lower neural tube defects: an alternate hypothesis.
Garabedian BH, Fraser FC
J Med Genet 1993 Oct;30(10):849-51. doi: 10.1136/jmg.30.10.849. PMID: 8230161Free PMC Article

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

Prognosis

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

Clinical prediction guides

Prevalence of supratentorial anomalies assessed by magnetic resonance imaging in fetuses with open spina bifida.
Trigo L, Eixarch E, Bottura I, Dalaqua M, Barbosa AA, De Catte L, Demaerel P, Dymarkowski S, Deprest J, Lapa DA, Aertsen M, Gratacos E
Ultrasound Obstet Gynecol 2022 Jun;59(6):804-812. doi: 10.1002/uog.23761. PMID: 34396624
Upper and lower neural tube defects: an alternate hypothesis.
Garabedian BH, Fraser FC
J Med Genet 1993 Oct;30(10):849-51. doi: 10.1136/jmg.30.10.849. PMID: 8230161Free PMC Article

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