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Pathogenesis

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The pathogenesis of transverse failures of formation is hypothesised to be a disruption of the proximo-distal patterning of the apical ectodermal ridge (AER) during limb formation. It has been suggested that there is a disruption of the blood supply to the AER at an early stage in development. Anecdotally, chorionic villous sampling and failed attempts at mechanical termination of pregnancy have been associated with transverse failure of formation and it has been suggested that these mechanical insults injure the AER vascular supply. A similar vascular insult and limb abnormality may be induced by the illicit ingestion of misoprostol to trigger abortion.


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