Clinical features

Abnormalities of the anorectal region are usually diagnosed on inspection during the newborn period, but surprisingly this is not always the case. In many cases the anus will be absent and meconium may be seen to originate from an abnormal site including a mucocutaneous fistula, the urethra in males or the vagina in females. Anomalies in which the anus is present but abnormally sited or stenosed may be more difficult to diagnose in the absence of adequate experience. The most complex abnormality in females is shown by the cloaca, represented by a single opening in the perineum with rectum, vagina and urethra joining a single channel.

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