The Cantrell-sequence: a result of maternal exposure to aminopropionitriles?

The characteristic features of the Cantrell-sequence--anterior thoraco-abdominal wall defect with ectopia cordis and diaphragm, sternum, pericardium, and heart defects--have been observed in animals following maternal administration of beta-aminopropionitrile, a toxic amino-acid derivative. We report on an unusual case of the Cantrell-sequence in a premature infant with associated dysmelia, aplasia of the right kidney, cerebellar hypoplasia and circumscribed aplasia of the cutis, which has not been reported previously. Maternal history suggested an occupational exposure to aminopropionitriles prior to pregnancy. Prenatal ultrasound, differential diagnosis, perinatal management, and the teratogenic role of aminopropionitriles in this rare genetic disorder are discussed.