Date of Award
Master of Arts (MA)
Dr. William J. Kimberling
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder in which affected individuals may have conductive, sensorineural or mixed hearing loss, preauricular pits, structural defects of the outer, middle or inner ear, fistulas and cysts of the second bronchial arc and renal anomalies ranging from mild hypoplasia to complete agenesis. There is wide variation in expression of the syndrome and not all symptoms are present in all carriers of the gene. Less frequent systems (e.g. lacrimal duct stenosis) have been described.
Comeau, Kimberly Kay, "The search for branchio-oto-renal syndrome on human chromosomes 1 and 8." (1990). Student Work. 3307.