{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T14:20:31Z","timestamp":1783606831934,"version":"3.55.0"},"reference-count":48,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T00:00:00Z","timestamp":1339977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coffin\u2013Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive\/developmental delay and 5th finger\/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the \u201cclassic\u201d coarse facial features previously described; another displays \u201cvariant\u201d facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to 15 additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole\u2010exome analysis. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35415","type":"journal-article","created":{"date-parts":[[2012,6,18]],"date-time":"2012-06-18T20:27:26Z","timestamp":1340051246000},"page":"1865-1876","source":"Crossref","is-referenced-by-count":78,"title":["The Coffin\u2013Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases"],"prefix":"10.1002","volume":"158A","author":[{"given":"Samantha A.","family":"Schrier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joann N.","family":"Bodurtha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Burton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert E.","family":"Chudley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Anne D.","family":"Chiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Gabriella","family":"D'avanzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Musio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitriy M.","family":"Nyazov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro A.","family":"Sanchez\u2010Lara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavit A.","family":"Shalev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew A.","family":"Deardorff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,6,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32111"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80288-8"},{"key":"e_1_2_6_4_1","first-page":"309","article-title":"Autosomal recessive mode of inheritance of a Coffin\u2013Siris like syndrome","volume":"6","author":"Bonioli E","year":"1995","journal-title":"Genet Couns"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32671"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20158"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120320027005"},{"key":"e_1_2_6_8_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_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.07.005"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.001"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1992.tb03265.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1985.04060040060012"},{"key":"e_1_2_6_13_1","first-page":"45","article-title":"Diaphragmatic hernia in the Coffin\u2013Siris syndrome","volume":"9","author":"Delvaux V","year":"1998","journal-title":"Genet Couns"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009010-00003"},{"key":"e_1_2_6_15_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_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31287"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02386876"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.243.726"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-4-354"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01074.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004703-198212000-00016"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1231"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590111"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80364-5"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31865"},{"key":"e_1_2_6_26_1","first-page":"171","article-title":"Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: Is it a variant of Coffin\u2013Siris or a new syndrome?","volume":"42","author":"Kirel B","year":"2000","journal-title":"Turk J Pediatr"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.653"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80331-7"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.3.237"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2006.03.022"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320080310"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000731)93:3<241::AID-AJMG16>3.0.CO;2-E"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<430::AID-AJMG11>3.0.CO;2-H"},{"key":"e_1_2_6_34_1","first-page":"45","article-title":"Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: The presentation of brachymorphism\u2013onychodysplasia\u2013dysphalangism syndrome?","volume":"7","author":"Ounap K","year":"1998","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816818509004127"},{"key":"e_1_2_6_36_1","first-page":"435","article-title":"12;14 translocation in Coffin\u2013Siris syndrome","volume":"24","author":"Patel ZM","year":"1987","journal-title":"Indian Pediatr"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260131"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513810902984129"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410317"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009040-00003"},{"key":"e_1_2_6_41_1","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00274083","article-title":"Medulloblastoma in association with the Coffin\u2013Siris syndrome","volume":"4","author":"Rogers L","year":"1988","journal-title":"Childs Nerv Syst"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34063"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02110010043002"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.083501.108"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32956"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04084.x"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33438"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.158"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.6861907"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35415","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35415","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T10:44:01Z","timestamp":1700563441000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,18]]},"references-count":48,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1002\/ajmg.a.35415"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35415","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,18]]}}}