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Wide cavum septum pellucidum

MedGen UID:
1842050
•Concept ID:
C5826802
•
Anatomical Abnormality
HPO: HP:0034964

Definition

Width of the cavum septum pellucidum above the upper limit of normal, which is defined as a separation of greater than one cm of the leaves of the cavum septum pellucidum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWide cavum septum pellucidum

Professional guidelines

PubMed

The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18.
He M, Du L, Xie H, Lei T, Zheng Q, Wu L
J Obstet Gynaecol Res 2019 Jul;45(7):1245-1250. Epub 2019 Apr 1 doi: 10.1111/jog.13960. PMID: 30932268

Recent clinical studies

Diagnosis

A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
Yi S, Tang X, Chen F, Wang L, Chen J, Yang Z, Huang M, Yi S, Huang L, Yang Q, Yang S, Pan P, Qin Z, Luo J
Mol Genet Genomic Med 2024 Jan;12(1):e2358. doi: 10.1002/mgg3.2358. PMID: 38284444Free PMC Article
Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?
Grosso S, Scattolini R, Paolo G, Di Bartolo RM, Morgese G, Balestri P
Neurosurgery 2001 Nov;49(5):1099-103; discussion 1103-4. doi: 10.1097/00006123-200111000-00015. PMID: 11846903
Wide cavum septum pellucidum: a marker of disturbed brain development.
Bodensteiner JB, Schaefer GB
Pediatr Neurol 1990 Nov-Dec;6(6):391-4. doi: 10.1016/0887-8994(90)90007-n. PMID: 1705800

Clinical prediction guides

A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus.
Yi S, Tang X, Chen F, Wang L, Chen J, Yang Z, Huang M, Yi S, Huang L, Yang Q, Yang S, Pan P, Qin Z, Luo J
Mol Genet Genomic Med 2024 Jan;12(1):e2358. doi: 10.1002/mgg3.2358. PMID: 38284444Free PMC Article
Association of Chiari I malformation, mental retardation, speech delay, and epilepsy: a specific disorder?
Grosso S, Scattolini R, Paolo G, Di Bartolo RM, Morgese G, Balestri P
Neurosurgery 2001 Nov;49(5):1099-103; discussion 1103-4. doi: 10.1097/00006123-200111000-00015. PMID: 11846903
Wide cavum septum pellucidum: a marker of disturbed brain development.
Bodensteiner JB, Schaefer GB
Pediatr Neurol 1990 Nov-Dec;6(6):391-4. doi: 10.1016/0887-8994(90)90007-n. PMID: 1705800

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