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Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590411","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:13:43Z","timestamp":1118513623000},"page":"454-459","source":"Crossref","is-referenced-by-count":74,"title":["Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder"],"prefix":"10.1002","volume":"59","author":[{"given":"Daniel","family":"Landau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hana","family":"Shalev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meli","family":"Ohaly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rivka","family":"Carmi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286618"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80133-4"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(62)90214-0"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000168015"},{"key":"e_1_2_1_6_1","first-page":"555","article-title":"Hearing loss in renal disease: Clinical and pathological studies","volume":"82","author":"Bergstrom L","year":"1973","journal-title":"Ann Otol"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.9.718"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000182051"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1993.01880160106017"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81194-1"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000186197"},{"key":"e_1_2_1_12_1","first-page":"53","article-title":"Hypercalciuria in a child with primary Fanconi syndrome and hearing loss","volume":"4","author":"Chevalier RL","year":"1983","journal-title":"Int J Pediatr Nephrol"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(89)80838-8"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.55.3.221"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(82)90928-7"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(76)90029-2"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80648-1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(81)90571-4"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.4.1606"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1981.tb11630.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1975.02120470051014"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000183372"},{"key":"e_1_2_1_23_1","volume-title":"Genetics and Metabolic Deafness","author":"Konigsmark BW","year":"1976"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111590"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442743"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.234.7.758"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82480-1"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.152.6.1251"},{"key":"e_1_2_1_29_1","volume-title":"Mendelian Inheritance in Man. 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