LETHAL CONGENITAL NON-SPHEROCYTIC, NONIMMUNE HEMOLYTIC-ANEMIA WITH GENITAL AND OTHER ANOMALIES IN 2 BROTHERS

Authors
Citation
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
Citations number
15
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
55
Issue
3
Year of publication
1995
Pages
319 - 324
Database
ISI
SICI code
0148-7299(1995)55:3<319:LCNNHW>2.0.ZU;2-U
Abstract
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.