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Universlty of Manitoba, ln Partîal Fulfiìlment - MSpace at the ...

Universlty of Manitoba, ln Partîal Fulfiìlment - MSpace at the ...

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1.1 TERATOLOGY<br />

Birth defects have <strong>at</strong>tracted popular curîosity from <strong>the</strong> earlìest<br />

tlmes, and scientífic <strong>at</strong>tentìon more recently. Thei r study constitutes<br />

<strong>the</strong> specÌal ity <strong>of</strong> Ter<strong>at</strong>ology, whîch combines many dîscipl¡nes with¡n <strong>the</strong><br />

areas <strong>of</strong> Developmental Bíology and Cl inical l4edicine. Ter<strong>at</strong>ology originally<br />

implled <strong>the</strong> study <strong>of</strong> rmonstersr, but has now expanded to embrace <strong>the</strong><br />

whole fleld <strong>of</strong> structurâl and functional defects present <strong>at</strong> birth.<br />

Three degrees <strong>of</strong> structural abnormal í tíes may be defîned:<br />

a) \,ari<strong>at</strong>ions are slight devi<strong>at</strong>ions from <strong>the</strong> range <strong>of</strong> normal, such as<br />

<strong>the</strong> delayed appearance <strong>of</strong> an ossific<strong>at</strong>¡on centre.<br />

b) Anomalies are minor structural defects which may remain undetected<br />

and do not produce marked functionaì disability, Examples in <strong>the</strong> vertebral<br />

column are sacral iz<strong>at</strong>îon <strong>of</strong> a lumbar vertebra or a symptomless spina bifida<br />

occu I ta .<br />

c) Malform<strong>at</strong>ions are more extensive defects present <strong>at</strong> birth. They may<br />

be major, as in anencephaly (which ís uniformly f<strong>at</strong>al) or more mînor, as in<br />

<strong>the</strong> congenital fusíon <strong>of</strong> two vertebral bodies.<br />

1.2 CLtNICAL il'1PoRTANCE q!: BrRTH pEFECTS<br />

<strong>ln</strong> recent years congenital malform<strong>at</strong>ions have become increasingly<br />

important in cl inical prêctice. Appl ic<strong>at</strong>ion <strong>of</strong> <strong>the</strong> prînciples oi publ ic<br />

health and preventive medicîne, followed by <strong>the</strong> introductlon <strong>of</strong> antimicroblal<br />

êgents, have produced a steady decl ine in nrortality from acute<br />

infections. Thus a rel<strong>at</strong>lvely hîgher proportion <strong>of</strong> de<strong>at</strong>hs in înfancy and<br />

childhood are now <strong>at</strong>tributable to congenital nalform<strong>at</strong>ions. Horeover,

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