THE FANCONI syndrome is an unusual combination of findings which include severe progressive refractory macrocytic anemia with pancytopenia (i.e., anemia, neutropenia, and thrombopenia), a hypoplastic bone marrow, and a generalized brown, melanin-like pigmentation of the skin, associated with congenital defects which have varied somewhat from case to case, but have often included microcephaly, bone abnormalities—particularly of the forearms and thumbs—hypogenitalia, genitourinary tract abnormalities, strabismus, and in at least one case, unilateral deafness, gynecomastia, and congenital heart disease.
Fanconi1 first described this syndrome in 1927 in three brothers, each of whom died of an aplastic-type anemia which began, in each case, at the age of 6 years. Microcephaly, generalized brown skin pigmentation, hypoplasia of the testes, and convergent strabismus were also present. Other instances of a familial occurrence of this syndrome have been reported by Emile-Weil2 (two brothers), Hjorth3 (brother and sister), and Dacie and Gilpin4 (two
SILVER HK, BLAIR WC, KEMPE CH. FANCONI SYNDROMEMultiple Congenital Anomalies with Hypoplastic Anemia. AMA Am J Dis Child. 1952;83(1):14–25. doi:10.1001/archpedi.1952.02040050030004
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