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