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In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.<\/jats:p>","DOI":"10.1136\/jmg.37.8.561","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:38:40Z","timestamp":1027751920000},"page":"561-566","source":"Crossref","is-referenced-by-count":177,"title":["Autosomal dominant sacral agenesis: Currarino syndrome"],"prefix":"10.1136","volume":"37","author":[{"given":"Sally Ann","family":"Lynch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Strachan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Burn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Lindsay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2000,8,1]]},"reference":[{"key":"2025101723442449000_37.8.561.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(02)82690-3"},{"key":"2025101723442449000_37.8.561.2","doi-asserted-by":"crossref","first-page":"395","DOI":"10.2214\/ajr.137.2.395","article-title":"Triad of anorectal, sacral, and presacral anomalies.","volume":"137","author":"Currarino","year":"1981","journal-title":"AJR"},{"key":"2025101723442449000_37.8.561.3","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1002\/bjs.1800600405","article-title":"Hereditary sacral agenesis associated with presacral tumours.","volume":"60","author":"Kenefick","year":"1973","journal-title":"Br J Surg"},{"key":"2025101723442449000_37.8.561.4","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1977.03270280041019"},{"key":"2025101723442449000_37.8.561.5","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278350"},{"key":"2025101723442449000_37.8.561.6","first-page":"115","article-title":"Dystocie osseuse par agenesie sacro-coccygienne. 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