[Branchio-oto-renal dysplasia. A hereditary dominant autosomal syndrome with variable expression].
A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.
D000328:Adult; D001935:Branchioma / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome
La dysplasie branchio-oto-rénale. Un syndrome héréditaire autosomique dominant à expression variable.