Bl. Waters et Br. West, LETHAL CONGENITAL NON-SPHEROCYTIC, NONIMMUNE HEMOLYTIC-ANEMIA WITH GENITAL AND OTHER ANOMALIES IN 2 BROTHERS, American journal of medical genetics, 55(3), 1995, pp. 319-324
Non-consanguineous healthy parents had 2 boys with severe, non-spheroc
ytic, nonimmune hemolytic anemia, abnormalities of their external geni
talia, flat occiput, dimpled earlobes, deep plantar creases, and incre
ased space between their first and second toes. The birth of these chi
ldren was separated by a spontaneous abortion at 3 months and delivery
of a normal girl. We propose that these boys have a heretofore undesc
ribed autosomal or X-linked recessive syndrome. (C) 1995 Wiley-Liss, I
nc.