[Branchio-oto-renal malformation syndrome (author's transl)].
After a brief review of the dysgenetic abnormalities which may affect the ear, branchial arches and pouches and the kidneys, the authors summarise those syndromes associating abnormalities of the ear and kidney on the one hand, and secondly abnormalities of the ear and facial and cervical fistulae. However, they are specifically interested in the branchio-oto-renal syndrome, reporting 5 cases. The syndrome combines deafness (middle ear and inner ear), pre-auricular and cervical fistulae and renal abnormalities. They attempt to summarise the syndrome by combining these 5 cases with the 15 published previously (4 initial cases of Melnick in 1974, 4 cases of Fitch in 1976, 7 of Fraser in 1978). The genetically transmissible nature of the syndrome would appear to be beyond doubt. The branchio-oto-renal syndrome was described for the first time in 1974 by Melnick, Bixter and Silk, who reported its existence in a father and three of his children, with an association of a malformation of the middle ear (block of the stapes), of the inner ear (cochlear hypoplasia), bilateral pre-auricular fistulae, bilateral cervical fistulae and renal hypoplasia with or without displasia. In 1974, Fitch and Srolowitz reported 4 new cases, and Fraser, Ling, Ologe and Nogrady a further 7 in 1978. The 5 cases published here bring the total known number to 20.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D001935:Branchioma / Q000151:congenital*; D002675:Child, Preschool; D004423:Ear / Q000002:abnormalities*; D007758:Ear, Inner / Q000002:abnormalities; D004432:Ear, Middle / Q000002:abnormalities; D005145:Face; D005260:Female; D005402:Fistula / Q000151:congenital; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009333:Neck; D013577:Syndrome
Le syndrome malformatif branchio-oto-rénal. A propos de 5 observations.