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In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad claviles, Hirschsprung \u201cdisease,\u201d and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.<\/jats:p>","DOI":"10.1002\/ajmg.1320320120","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:26:04Z","timestamp":1118546764000},"page":"93-99","source":"Crossref","is-referenced-by-count":51,"title":["Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome"],"prefix":"10.1002","volume":"32","author":[{"given":"J. Stephen","family":"Bamforth","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire O.","family":"Leonard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard N.","family":"Chodirker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilda L.","family":"Gritter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane A.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beth","family":"Keena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tapio","family":"Pantzar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan M.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.5.367"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.399"},{"key":"e_1_2_1_4_1","first-page":"336","volume-title":"Genetic Causes of Mental Retardation. 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