LIMB DEFECTS AND CONGENITAL-ANOMALIES OF THE GENITALIA IN AN INFANT WITH HOMOZYGOUS ALPHA-THALASSEMIA

We describe an infant with homozygous alpha-thalassemia, genital abnor malities, and terminal transverse Limb defects, whose Limbs demonstrat e evidence of loss of tissue and abnormal morphogenesis. We propose th ese defects were due to either severe fetal anemia or to vascular occl usion by abnormal erythrocytes, resulting in hypoxia of the developing distal limbs and genitalia. (C) 1997 Wiley-Liss, Inc.