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occipital encephalocele

Tuesday 11 January 2005

Definition: In posterior encephalocele, the brain and meninges herniate through a defect in the calvaria.

Occipital encephalocele belongs to the family of neural tube defects, which occur in one among 2000 to 5000 live births.

Syndromic encephaloceles include Meckel-Gruber syndrome and various chromosomal abnormalities.

Types (Examples)

- isolated posterior encephalocele (non-syndromic posterior encephalocele)

- associated posterior encephalocele

  • 1p35-pter deletion and 14q32-qter duplication inherited from a maternal balanced translocation (17385797)

- syndromic posterior encephalocele

  • Meckel syndrome

Case records

- Case #11132

See also

- Malformations

  • cerebral malformations
    • encephaloceles

References

- Thauvin-Robinet C, Callier P, Laurent N, Rousseau T, Masurel-Paulet A, Marle N, Huet F, Sagot P, Faivre L, Mugneret F. Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. Prenat Diagn. 2007 Jun;27(6):555-9. PMID: 17385797

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