{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:30:59Z","timestamp":1790767859651,"version":"4.1.0"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Townes\u2013Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in <jats:italic>SALL1<\/jats:italic> gene and initially characterized by the triad of anorectal, thumb, and ear malformations. Essentially described in children, adult case reports are uncommon. Renal involvement has already been reported in adults and children but poorly described. Structural abnormalities such as hypodysplasia, unilateral renal agenesis or multicystic kidneys have been described, as well as functional impairment (with or without structural abnormalities) that may progress to end\u2010stage renal disease (ESRD). We report two adult cases (mother and daughter) which exhibited kidney hypoplasia (focal and segmental glomerulosclerosis for the mother) and ESRD. The mother had unilateral polydactyly. TBS was suggested after physical examination. TBS diagnosis was confirmed by identification of a <jats:italic>SALL1<\/jats:italic> variant. We conducted a literature review to evaluate the renal anomalies in TBS cases diagnosed in adulthood. Among 44 adult cases of TBS with genetic confirmation (including our two cases), 10 had kidney disease. The circumstances of renal failure diagnosis were incidental findings (2\/5), gout (2\/5), or repeated episodes of pyelonephritis (1\/5). The median age of kidney disease diagnosis was 30\u2009years old and of renal transplant 49\u2009years old. The most frequent renal malformation was bilateral kidney hypoplasia. TBS is probably underestimated in adulthood and this report highlights that less obvious elements of morphology such as dysplasic ears can facilitate the diagnosis of TBS. As long\u2010term prognosis of renal involvement in TBS patients remains largely unknown, a regular evaluation is required throughout life for patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.62050","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T13:06:22Z","timestamp":1610715982000},"page":"937-944","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Adult diagnosis of <scp>Townes\u2013Brocks<\/scp> syndrome with renal failure: Two related cases and review of literature"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2848-5869","authenticated-orcid":false,"given":"Olivia","family":"Beaudoux","sequence":"first","affiliation":[{"name":"CHU Reims, Pole de Biologie, Service de Pathologie  Reims France"},{"name":"Universit\u00e9 de Reims Champagne\u2010Ardenne, EA IRMAIC  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne\u2010Sophie","family":"Lebre","sequence":"additional","affiliation":[{"name":"CHU Reims, Pole de Biologie, Service de Biochimie  Reims France"},{"name":"Universit\u00e9 de Reims Champagne\u2010Ardenne  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Doco Fenzy","sequence":"additional","affiliation":[{"name":"Universit\u00e9 de Reims Champagne\u2010Ardenne  Reims France"},{"name":"CHU Reims, Service de G\u00e9n\u00e9tique  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Spodenkiewicz","sequence":"additional","affiliation":[{"name":"CHU Reims, Service de G\u00e9n\u00e9tique  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Canivet","sequence":"additional","affiliation":[{"name":"CHU Reims, Service de N\u00e9phrologie  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Colosio","sequence":"additional","affiliation":[{"name":"CHU Reims, Service de N\u00e9phrologie  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Poirsier","sequence":"additional","affiliation":[{"name":"CHU Reims, Service de G\u00e9n\u00e9tique  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,13]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"104","article-title":"Townes\u2010Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac abnormalities","volume":"2","author":"Barakat A. 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