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At the 1991 American Laryngological Association meeting at Waikaloa, Hawaii, Donald Leopold, MD, and David Hornung, Syracuse, NY, presented their findings of 22 patients with congenital anosmia. The importance of obtaining an accurate history to exclude other causes and to highlight possible familial, craniofacial, or endocrine factors was stressed. A number of their patients had other family members with similar histories, suggesting transmission in an autosomal dominant pattern. Two patients had endocrine disorders; one was a man with Kallmann's syndrome, and the other was a woman with multiple endocrine abnormalities.
Evaluation included taste and smell testing, nasal endoscopy, computed tomographic scanning, and, occasionally, biopsy. Uniformly low responses to odorant testing were noted, although some patients could perceive pungent smells. Computed tomographic scans were usually normal, with two cases of choanal narrowing found. Nasal biopsy specimens obtained from five patients showed mixed results, with some olfactory epithelium detected in two.
WAGUESPACK RW. Congenital Anosmia. Arch Otolaryngol Head Neck Surg. 1992;118(1):10. doi:10.1001/archotol.1992.01880010012002