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encephaloceles

DA:148

Wednesday 12 January 2005

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

Types

- anterior encephalocele
- parietal encephalocele
- posterior encephalocele (occipital encephalocele)
- basal meningoencephalocele

Associations

- isolated encephalocele (non-syndromic encephalocele)

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

- syndromic encephalocele

  • Meckel syndrome (with polydactyly and bilateral multicystic renal dysplasia) (occipital encephalocele)
  • Knobloch syndrome
  • DK phocomelia
  • association laryngeal atresia, encephalocele and limb deformities (LAELD)
  • Walker-Warburg syndrome
  • craniotelencephalic dysplasia
  • syndrome brachial amelia, forebrain defects and facial defects
  • Fukuyama congenital muscular dystrophy (rarely)
  • congenital hypothalamic hamartoma
  • frontofacionasal dysostosis
  • Coach syndrome

- associated encephalocele
- amniotic band syndrome

See also:

- cerebral malformations
- NTDs (neural tube defects)

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