{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T01:28:24Z","timestamp":1773019704679,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000862","name":"Doris Duke Charitable Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000862","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Coffin\u2013Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo\u2010 or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and\/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who have been described with Coffin\u2013Siris between the time of its initial description and the present. However, despite recent advances, a number of patients who traditionally fit the diagnosis have yet to have identified causes. This could be due to patients who lie outside the defined phenotype, or alternatively, to additional as yet unidentified genes which may play roles. Here we outline the range of clinical features described in the broader diagnostic category, review the continuing phenotypic challenges and note those subsets of patients for whom molecular causes have yet to be clarified. Finally, we discuss recommendations for clinical management of these individuals. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31411","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T16:45:34Z","timestamp":1409244334000},"page":"252-256","source":"Crossref","is-referenced-by-count":40,"title":["Clinical features, diagnostic criteria, and management of Coffin\u2013Siris syndrome"],"prefix":"10.1002","volume":"166","author":[{"given":"Samantha S.","family":"Vergano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,8,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32111"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20158"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120320027005"},{"key":"e_1_2_5_5_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin GS","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060040060012"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010215)99:1<1::AID-AJMG1127>3.0.CO;2-A"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31287"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.007"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35933"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00972041"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513810902984129"},{"key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00274083","article-title":"Medulloblastoma in association with the Coffin\u2010Siris syndrome","volume":"4","author":"Rogers L","year":"1988","journal-title":"Childs Nerv Syst"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2217"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.22299"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35415"},{"key":"e_1_2_5_18_1","volume-title":"GeneReviews(R)","author":"Schrier Vergano S","year":"1993"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32956"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T12:43:49Z","timestamp":1694609029000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,28]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["10.1002\/ajmg.c.31411"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31411","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,28]]}}}