Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities

Clinical Features

Waters and West (1995) described a lethal congenital nonspherocytic, nonimmune hemolytic anemia associated with abnormalities of the external genitalia, flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes in 2 brothers. The birth of these children was separated by a spontaneous abortion at 3 months and the delivery of a normal girl. The authors suggested that this was a hitherto undescribed autosomal or X-linked recessive syndrome. The second-born infant had marked ascites and hepatosplenomegaly. Although the parents were not known to be consanguineous, they shared a French Canadian and Native American ethnic origin.