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CONGENITAL HYPOPLASTIC ANEMIA ASSOCIATED WITH MULTIPLE DEVELOPMENTAL DEFECTS (FANCONI'S SYNDROME)

CHRISTOS CASSIMOS, M.D., D.C.H.; LEDA ZANNOS, M.D.
AMA Am J Dis Child. 1952;84(3):347-350. doi:10.1001/archpedi.1952.02050030073008.
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FANCONI1 in 1927 first described a syndrome in three brothers, aged 3, 5, and 7 years, respectively, who had aplastic anemia, microcephaly, testicular hypoplasia, strabismus, exaggerated deep-tendon reflexes, and a generalized brown melanin-like pigmentation of the skin. This syndrome is characterized by multiple congenital malformations associated with hypoplastic anemia.

The congenital defects most frequently seen are retardation of growth and development; multiple anomalies of the skeleton, especially absence of radius, thumbs, and carpal bones; syndactyly; microcephaly; microphthalmia; ptosis; strabismus; congenital heart disease; hypogenitalism; cryptorchism, and hypospadiasis.

The blood has the characteristics of hypoplastic anemia, with normocytic and normochromic red blood cells. The leucocyte count shows a neutropenia, with leucocytes being usually less than 5,000 per cubic millimeter. The platelets are usually below 50,000 per cubic millimeter. The bone marrow is hypoplastic. The skin often has a dark color with areas of brown pigmentation.

The disease has a progressive course.

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