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American Journal of Roentgenology, Vol 97, 100-109, Copyright © 1966 by American Roentgen Ray Society


ROENTGEN APPEARANCE OF ANOMALIES ASSOCIATED WITH HYPOPLASTIC ANEMIAS OF CHILDHOOD: FANCONI'S ANEMIA AND CONGENITAL HYPOPLASTIC ANEMIA (ERYTHROGENESIS IMPERFECTA)

HIDEYO MINAGI M.D.1 and HOWARD L. STEINBACH M.D.1

1 From the Department of Radiology, University of California School of Medicine, San Francisco, California

Fanconi's anemia is a hematologic disorder, often familial, characterized by pancytopenia and diverse congenital anomalies. The most frequent of these anomalies are abnormal skin pigmentation, skeletal anomalies, primarily of the thumb, growth retardation, and hypogonadism. Microcephaly, renal anomalies, microphthalmia, and strabismus also are frequently associated with this disease.

Erythrogenesis imperfecta, or congenital

[See table in the PDF file]

hypoplastic anemia, is characterized by a hematologic deficiency limited to the erythrocytic series. It usually begins within the first year of life. A review of the literature disclosed approximately one-third of these patients with some form of maldevelopment. Most of the abnormalities were mental and physical retardation, congenital heart disease, and skeletal anomalies.

A discussion of the roentgen features in these diseases is presented, together with the findings in 4 patients with Fanconi's anemia and 1 With erythrogenesis imperfecta.


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