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September 1970

Fanconi Anemia Syndrome

Author Affiliations

From the Department of Otolaryngology, Naval Hospital, Philadelphia.

Arch Otolaryngol. 1970;92(3):284-285. doi:10.1001/archotol.1970.04310030074017

The Fanconi anemia syndrome consists of multiple congenital anomalies and aplastic anemia. Diagnosis is made clinically and confirmed by chromosome analysis. This case represents an unusual occurrence in a 21-year-old woman with congenital middle ear disease. To my knowledge, this is the first description of the kind of pathological changes in the middle ear which were found at surgical exploration. The patient subsequently developed squamous cell carcinoma of the gingivae. Findings from chromosome analysis were typical for the Fanconi syndrome. Skin fibroblasts were obtained by biopsy and studied in tissue culture. An increased susceptibility to simian virus 40 (SV 40) was found. The relationship of these findings to malignancy may prove to be important in future studies.

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