{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T18:36:09Z","timestamp":1784140569606,"version":"3.55.0"},"reference-count":22,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,1,1]]},"abstract":"<jats:p>The 3MC syndromes types 1\u20133 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes encoding the lectin complement pathway. Patients with 3MC syndrome have a distinctive facial phenotype including hypertelorism, highly arched eyebrows and ptosis. A significant number of patients have bilateral cleft lip and palate and they often exhibit genitourinary and skeletal anomalies. A clinical clue to 3MC syndrome is the presence of a characteristic caudal appendage. Genetic variants in <jats:italic toggle=\"yes\">MASP1, COLEC11<\/jats:italic> and <jats:italic toggle=\"yes\">COLEC10<\/jats:italic> genes have been identified as the causation of this syndrome, yet relatively few patients have been described so far. We consolidate and expand current knowledge of phenotypic features and molecular diagnosis of 3MC syndrome by describing the clinical and molecular findings in five patients. This includes follow-up of two brothers whose clinical phenotypes were first reported by <jats:italic toggle=\"yes\">Crisponi et al<\/jats:italic> in 1999. Our study contributes to the evolving clinical and molecular spectrum of 3MC syndrome.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000443","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T10:00:31Z","timestamp":1670839231000},"page":"7-13","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum"],"prefix":"10.1097","volume":"32","author":[{"given":"Chloe Jade","family":"Ashton","sequence":"first","affiliation":[{"name":"Manchester Centre For Genomic Medicine, University of Manchester, St Mary\u2019s Hospital, Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahat","family":"Perveen","sequence":"additional","affiliation":[{"name":"Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenda","family":"Beaman","sequence":"additional","affiliation":[{"name":"Division of Evolution and Genomic Sciences School of Biological Sciences University of Manchester, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giangiorgio","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Centro per lo Studio delle Malformazioni Congenite and Servizio di Puericultura, Universit\u00e0 di Cagliari, Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariadna","family":"Gonz\u00e1lez-Del Angel","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilda","family":"Garza-May\u00e9n","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel Angel","family":"Alc\u00e1ntara-Ortigoza","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Ciudad de M\u00e9xico, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"O\u2019Sullivan","sequence":"additional","affiliation":[{"name":"Manchester Centre For Genomic Medicine, University of Manchester, St Mary\u2019s Hospital, Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[{"name":"Manchester Centre For Genomic Medicine, University of Manchester, St Mary\u2019s Hospital, Manchester"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,11,28]]},"reference":[{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1159\/000517370","article-title":"Further expansion of the mutational spectrum of 3MC syndrome: a novel MASP1 pathogenic variant in a male patient.","volume":"12","author":"Agaoglu","year":"2021","journal-title":"Mol. 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