Extreme hypotrophy of the lower body polecomma; extensive hypoplasia of the spinal column and multiple anomalies of abdominal organsa maximal variant of the caudal regression sequencequest;

摘要

A newborn with extreme hypotrophy of the lower body pole and aplasia of the lower spinal column is reported. Additional anomalies of internal organs included absence of one kidney and ureter, a diaphragmatic hernia and anal atresia. Part of the organs located; in the lower body pole were necrotic. There were no excretory apertures, and external genitalia were absent. Chromosomal analysis revealed a 46,XY karyotype. The multiple anomalies seen in this newborn may be interpreted as a maximal variant of the caudal regression sequence.