Thymic-Renal-Anal-Lung Dysplasia

Rudd et al. (1990) reported 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases associated with imperforate anus. Autosomal recessive inheritance was suggested, but an unrecognized chromosome imbalance was also considered a possibility. Two of the sibs had been included in the series of cases of the Potter sequence reported by Curry et al. (1984).