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Radiology Forum
January 2000

Quiz Case 2

Author Affiliations

Copyright 2000 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2000

Arch Otolaryngol Head Neck Surg. 2000;126(1):95. doi:

The association of hearing impairment, preauricular pits, and branchial fistulae occurring in families has been known since 1832.1 Numerous families showing this combination of congenital anomalies transmitted in an autosomal dominant mode have been described.2-4 In 1976, Melnick et al5 described a family in which the father and 3 of the living children (1 boy and 2 girls) presented with bilateral small ears with cup-shaped anteverted pinnae, bilateral preauricular pits, cervical branchial fistulae, and mixed hearing loss. Bilateral aplasia of the inferior lacrimal duct was present in the proband. Intravenous pyelography demonstrated renal anomalies in all affected family members. Melnick and colleagues described this combination of anomalies as BOR dysplasia.

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