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We describe a newborn girl with Fryns syndrome and Hirschsprung disease, an association that has been reported in five previous cases. These patients support the hypothesis that the neural crest plays a role in the pathogenesis of Fryns syndrome. Clinically asymptomatic or subtle anomalies that are in the spectrum of neural crest maldevelopment should be sought in all patients with Fryns syndrome including stillbirths, neonatal deaths, as well as long\u2010term survivors. We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30423","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T19:19:05Z","timestamp":1102101545000},"page":"226-230","source":"Crossref","is-referenced-by-count":13,"title":["Fryns syndrome with Hirschsprung disease: Support for possible neural crest involvement"],"prefix":"10.1002","volume":"132A","author":[{"given":"Fowzan S.","family":"Alkuraya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela E.","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mira B.","family":"Irons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia E.","family":"Kimonis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,12,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000637-200106000-00012"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.11.758"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.729"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10763"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320120"},{"key":"e_1_2_6_7_1","first-page":"128","article-title":"Letter: The neurocristopathies: A unifying concept of disease arising in neural crest development","volume":"6","author":"Benish BM","year":"1975","journal-title":"Hum Pathol"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(74)80021-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513819709168343"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000264193"},{"key":"e_1_2_6_11_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1542\/peds.85.4.499","article-title":"Fryns syndrome: An autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia","volume":"85","author":"Cunniff C","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1754.2002.00820.x"},{"key":"e_1_2_6_13_1","unstructured":"DocimoSG KiddesP HortonCE.1989.Primary obstructive megaureter: A neuroanatomic disease? 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