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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cloacal dysgenesis sequence: observations in four patients including three fetuses of second trimester gestation.

Cloacal dysgenesis is a rare malformation sequence. We studied cloacal dysgenesis in four fetuses, including three at 18-22 weeks of gestation. All four fetuses showed a smooth perineum with absence of anal, urethral, and/or vaginal openings. The urinary bladder was dilated in 3 cases. The labia majora and minora were absent in the two female fetuses; the scrotum and penis were absent in one male fetus and hypoplastic in the second. The kidneys were either absent (1 case), dysplastic (1 case), or hydronephrotic (1 case). Normal kidneys were seen in a fetus of 20-22 weeks gestation in whom the urinary obstruction was alleviated by a vesicocolonic fistula. This fetus did not have pulmonary hypoplasia. Severe renal anomaly and pulmonary hypoplasia are the limiting factors for the survival of infants born with cloacal dysgenesis. The unique observation of normal kidneys and lungs in one of our fetuses, despite anhydramnios, suggests that the effect of oligohydramnios on lung development may be limited early in gestation, at least up to 20-22 weeks. It may also indirectly support the theory that there are factors other than oligohydramnios that interfere with early lung development, such as reduced production of a pulmonary growth factor by the kidney or reduced proline production by malformed kidneys, that may cause decreased collagen formation and result in hypoplastic lung mesenchyme.[1]


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