Abstract
Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.
Highlights
Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb
We report three cases of sirenomelia including x-ray documentation of the lower limb
É possível que a associação de outros defeitos do campo primário do desenvolvimento esteja sendo subestimada, uma vez que a ocorrência de sirenomelia na população é rara e, embora a fusão dos membros e a agenesia renal sejam rotineiramente diagnosticadas pela ultrassonografia, outras malformações associadas podem não ser detectadas
Summary
Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. Sirenomelia é um defeito congênito muito raro do campo primário do desenvolvimento, definido pela substituição dos membros inferiores, normalmente pareados por um único membro mediano. Relatamos três casos necropsiados dessa entidade, incluindo estudo radiológico do membro inferior único, associados a agenesia renal bilateral, de ureteres e da bexiga, atresia retal, ânus imperfurado, testículos abdominais e ausência de genitália externa, além de outros defeitos congênitos infrequentemente observados, que somente puderam ter seus diagnósticos firmados por meio da necropsia.
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