Tibial agenesis with radial ray and cardiovascular defects

摘要

The combination of tibial agenesis with radial ray and cardiovascular defects has been observed in patients with Mendelian disorders and in those with multiple congenital anomalies of unknown cause. We report two apparently unrelated children who had unusual combinations of such findings in association with other, predominantly midline, anomalies (imperforate anus, extra ribs, uterus didelphys). Comparison of the anomalies in these infants and similar cases from the literature suggests that they may represent examples of an association of the cardiogenic and limb developmental fields occurring either as manifestations of a previously unrecognized single gene disorder or as an expansion of the VACTERL association.