[Skip to Content]
Access to paid content on this site is currently suspended due to excessive activity being detected from your IP address 54.163.129.96. Please contact the publisher to request reinstatement.
[Skip to Content Landing]
Citations 0
Radiology Forum
January 2000

Quiz Case 2

Arch Otolaryngol Head Neck Surg. 2000;126(1):96-97. 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.24 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.

First Page Preview View Large
First page PDF preview
First page PDF preview
×