Phocomelia with congenital hypoplastic thrombocytopenia and myeloid leukemoid reactions

Abstract

Five patients with phocomelia of the upper extremities and associated blood cell abnormalities are reported. The skeletal anomalies were consistent in that there were five-fingered hands, absent radii and ulnae, and hypoplastic humeri. In each patient there was a persistent hypoplastic thrombocytopenia, which was most profound in the early months of life and tended to improve with age. Each patient also had episodes of myeloid leukemoid reactions. The etiology of this condition is unknown, but it is of interest that two of the patients were siblings.