Congenital longitudinal radial deficiency in infants: Spectrum of isolated cases to VACTERL syndrome

Abstract

Congenital longitudinal radial deficiency is a rare congenital anomaly and encompasses a spectrum ranging from mild hypoplasia to complete absence of radius. Furthermore known as radial club hand or radial dysplasia, there is variable degree of deficiency along the radial side of the limb. The authors report a case series of four cases; two cases of isolated radial club hand and two associated with other anomalies, including VACTERL syndrome. The rarity of the disease and the need to exclude other associated anomalies are emphasized.