Radial longitudinal deficiency: Radius hypoplasia

Radial longitudinal deficiency (RLD) comprises a spectrum of clinical manifestations involving phenotypic changes of the upper extremity that range from underdevelopment to complete absence of the radial-sided structures. The presence of RLD has been associated with many medical conditions, the most notable being thrombocytopenia-absent radius syndrome, VACTERL association, Holt-Oram syndrome, and Fanconi anemia. Treatment of RLD varies depending on the level of deformity, which often coincides with the degree of radial absence. Minor deformities may be best treated with observation and splinting. Severe radial deviation deformities have been treated with many surgical interventions including centralization, radialization, radial release, and microsurgical epiphyseal transfer. The definitive "best" treatment has yet to be determined, and likely is not the same for every patient. Future comparisons of those treated for RLD with surgical intervention versus those treated by nonoperative means may shed the most meaningful light on what interventions benefit these children the most.