Abstract
The main clinical features of facioaudiosymphalangism syndrome (FASS) (OMIM *186500) are characterized by a distinct facies with a broad hemicylindrical nose and hypoplasia of alae nasi, proximal symphalangism of the fingers, carpal and tarsal fusion, and progressive conductive deafness. A number of patients, who were mainly reported in the early literature, showed intrafamilial and interfamilial variability. We have found this disorder in 2 members of a family in whom FASS was associated with nasal cartilage aplasia.
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More From: American Journal of Otolaryngology--Head and Neck Medicine and Surgery
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