{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T15:58:38Z","timestamp":1758815918668},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T00:00:00Z","timestamp":1147305600000},"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":[[2006,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coffin\u2013Siris syndrome is a multiple congenital anomaly\/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin\u2013Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin\u2013Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin\u2013Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin\u2013Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31287","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T05:18:28Z","timestamp":1147411108000},"page":"1326-1330","source":"Crossref","is-referenced-by-count":8,"title":["Autosomal dominant syndrome resembling Coffin\u2013Siris syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Maureen A.","family":"Flynn","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeff M.","family":"Milunsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,11]]},"reference":[{"key":"e_1_2_5_2_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 Counsel"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960906)64:4<568::AID-AJMG8>3.0.CO;2-L"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20158"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1978.02120320027005"},{"key":"e_1_2_5_6_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_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009010-00003"},{"key":"e_1_2_5_8_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_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02386876"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01074.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00004703-198212000-00016"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20678"},{"key":"e_1_2_5_13_1","first-page":"171","article-title":"Triplets with growth failure, microcephaly, mental retardation, nail hypolplasia 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_5_14_1","first-page":"45","article-title":"Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: The presentation of brachymorphism\u2010onychodysplasia\u2010dysphalangism syndrome?","volume":"7","author":"Ounap K","year":"1998","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)81101-4"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410317"},{"key":"e_1_2_5_17_1","first-page":"169","article-title":"Coffin\u2013Siris syndrome in a Brazilian child with consanguineous parents","volume":"9","author":"Richieri\u2010Costa A","year":"1986","journal-title":"Rev Brasil Genet"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02110010043002"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb04084.x"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.2.158"}],"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.31287","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31287","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:20:49Z","timestamp":1697671249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31287"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,11]]},"references-count":19,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,6,15]]}},"alternative-id":["10.1002\/ajmg.a.31287"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31287","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,11]]}}}