Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies

We describe an infant who died shortly after birth, with Potter sequence and prune belly anomaly, omphalocele, single umbilical artery, imperforate anus and micropenis with empty scrotum. Fetopathological examination revealed multiple vertebral anomalies with rudimentary sacrum, hypoplasia o2 the first metacarpus on right hand, complex cardiovascular anomalies, malrotation of intestines, a dilated and blind-ending cloaca to which both ureters and a bicornuate uterus were connected, normal ovaries, hypoplastic kidneys with cystic renal dysplasia. The descending colon ended blindly and showed a fistulous communication with the cloaca. Chromosome studies on peripheral blood lymphocytes and fibroblasts of a skin biopsy demonstrated a normal 46,XX karyotype. The possible mechanisms underlying the concurrence of a caudal developmental field defect with female pseudo-hermaphroditism and additional features of the VACTERL association are discussed.