Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.
The present report concerns a two-generation family of nine individuals in which the father and three of the six living children all had: (1) a mixed hearing loss with a Mondini type cochlear malformation and stapes fixation; (2) cup-shaped, anteverted pinnae with bilateral prehelical pits: (3) bilateral branchial cleft fistulas; and (4) bilateral renal dysplasia and anomalies of the collecting system. The father and one affected son also had aplasia of the lacrimal ducts. A fourth child who died at 5 months of age was reported to have branchial cleft fistulas and bilateral polycystic kidneys at autopsy. In addition, the concept of noso-embryologic communities is presented. Such groups are composed of syndromes whose total phenotypic spectra not only overlap but also share common elements in embryogenesis. This concept is illustrated with a group of branchial arch syndromes that are related in this way.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001934:Branchial Region; D002648:Child; D003051:Cochlea / Q000002:abnormalities; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005402:Fistula / Q000235:genetics*; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D013199:Stapes / Q000002:abnormalities; D013577:Syndrome