Article
Phenotypic manifestations of branchio-oto-renal syndrome.
American journal of medical genetics - 25 Sept 1995
Chen A, Francis M, Ni L, Cremers C W, Kimberling W J, Sato Y, Phelps P D, Bellman S C, Wagner M J, Pembrey M
Abstract excerpt
Branchiootorenal (BOR) syndrome is a variable, autosomal-dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract. We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct,...
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