Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities

Saito et al. (1989) described 2 sibs, a male and female born of a nonconsanguineous, relatively young couple, with a lethal acrorenal developmental complex. Both died of respiratory failure in the neonatal period. Radiologic features were symmetric mesomelic shortness of the limbs, fibular agenesis, oligosyndactyly, micrognathia, and hypoplastic ulna. The ears were abnormally formed, and the kidneys were cystic or hypoplastic. Some of the features, such as malformed ears and respiratory failure, are consistent with Potter sequence; however, the disorder appeared to be different from previously described forms of fibular aplasia/hypoplasia (Lewin and Opitz, 1986). Autopsy in the brother showed truncus arteriosus and ventricular septal defect. In the second pregnancy, that of the male, ultrasound detected 2 gestational sacs early in the pregnancy; one contained a fetus and the other regressed and disappeared by 15 weeks' gestation.