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4 Cards in this Set

  • Front
  • Back

Spina Bifida: What is it? What types can occur?

A neural tube defect characterised by incomplete closure of the backbone and membranes around the spinal cord.




Spina bifida occulta: the outer part of the vertebrae doesn't close completely - sometimes a small patch of hair on the lumbar region but no other signs




Meningocoele: a cyst forms when some of the meninges protrudes between the vertebrae



Myelomeningocoele: the cyst contains some of the spinal cord / cauda equina




Pregnant women should take folate in order to reduce the risk of spina bifida.

Anencephaly: What is it?

Anencephaly is a congenital birth defect where the rostral end of the neural tube fails to close. This causes part of the brain to be absent - usually the telencephalon (cerebrum)

Congenital hydrocephalus: What is it?

Accumulation of CSF in the brain, causing increased intracranial pressure. Can be caused by type II Arnold-Chiari malformation and spina bifida.

DiGeorge syndrome: What is it?

Deletion of a small portion of chromosome 22, associated with problems in development of the pharyngeal arches.




Symptoms CATCH22 mnemonic:


Cardiac abnormality (tetralogy of Fallot)


Abnormal facies


Thymic aplasia


Cleft palate


Hypocalcaemia/hypoparathyroidism


22 - chromosome number