Genetic Hearing Loss With Preauricular Sinus and Branchiogenic Fistula

The deafness, pre-auricular sinus, external ear anomaly and commissural lip pits syndrome – otological, vestibular and radiological findings

“…For example, a combination of stapes footplate fixation and the absence of the long process of the incus is often seen and there is a higher incidence of dysplasia of the oval and/or round windows, which is an expression of more extensive branchiogenic involvement. Dysplasia of the inner ear has also been described in the BOR syndrome (Won et al, 1977;Cremers et al, 1981). This can be explained as being the result of impeded growth of the otic capsule, which is surrounded by a layer of cartilage of branchial origin during early development (Van de Water and Represa, 1991).…”

Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss

“…on clinical or genetic grounds, including 13 in the present study [2-4,6,8, 10-12, 15, 17,20,21,[23][24][25]27,28,31,32].…”

The Preauricular Sinus: A Review of its Clinical Presentation, Treatment, and Associations

“…One series of cases of branchial cleft anomalies found that 60% had preauricular sinuses (26). The occurrence of these two conditions in a mother and her two children has also been reported (27). The branchio-oto-renal (BOR) syndrome is associated with preauricular sinuses.…”