title: Lethal congenital non-spherocytic, non-immune hemolytic anemia with genital and other anomalies in two brothers.
abstract: Non-consanguineous healthy parents had 2 boys with severe, non-spherocytic, nonimmune hemolytic anemia, abnormalities of their external genitalia, flat occiput, dimpled earlobes, deep plantar creases, and increased space between their first and second toes. The birth of these children was separated by a spontaneous abortion at 3 months and delivery of a normal girl. We propose that these boys have a heretofore undescribed autosomal or X-linked recessive syndrome.
authors.affiliation: Department of Pathology, University of Vermont College of Medicine, Burlington 05405, USA.
authors.forename: B L
authors.initials: BL
authors.lastname: Waters
authors.forename: B R
authors.initials: BR
authors.lastname: West
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D001201:Ascites; D017809:Fatal Outcome; D005837:Genitalia, Male / Q000002:abnormalities*; D006411:Hematopoiesis, Extramedullary / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome