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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUpper thoracic spina bifida cystica

Abnormality of the nervous system
- Abnormal nervous system morphology
  - Morphological central nervous system abnormality
    - Abnormal neural tube morphology
      - Neural tube defect
        Myelomeningocele
        Upper 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: 8230161 Free PMC Article

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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

See all (1)