Radial-Renal Syndrome

Sofer et al. (1983) described father and son with bilateral absence of the thumb and radius, short stature, mild external ear malformation, and renal anomaly (in the father, absent right renal kidney; in the son, crossed renal ectopia of the left kidney). The son showed a high frequency of chromosome breaks in lymphocytes. The father had 5 unaffected sibs; his parents were normal, including intravenous pyelography. The father was not blood-related to his wife; both were of Jewish-Moroccan origin. Siegler et al. (1980) described radial ray defect and renal disease in 2 sibs.