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Although craniofacial alterations are frequent in this condition, to date craniosynostosis is not considered part of the clinical spectrum. Here, we report bi\u2010coronal craniosynostosis in a newborn affected by CHARGE syndrome caused by the de novo heterozygous c.6157C&gt;T, p.(Arg2053*) <jats:italic>CHD7<\/jats:italic> variant. We found two additional subjects in the literature with different craniosynostoses and distinct <jats:italic>CHD7<\/jats:italic> alterations. The inclusion of <jats:italic>CHD7<\/jats:italic>\u2010related CHARGE syndrome in the group of rare causes of syndromic craniosynostoses is proposed.<\/jats:p>","DOI":"10.1002\/ajmg.a.62208","type":"journal-article","created":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T19:01:08Z","timestamp":1618254068000},"page":"2160-2163","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Craniosynostosis is a feature of <scp><i>CHD7<\/i><\/scp>\u2010related <scp>CHARGE<\/scp> syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1587-3130","authenticated-orcid":false,"given":"Chiara","family":"De Luca","sequence":"first","affiliation":[{"name":"Human Genetics, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simonetta","family":"Picone","sequence":"additional","affiliation":[{"name":"Neonatology and Neonatal Intensive Care Policlinico Casilino Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Cassina","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Department of Women's and Children's Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5805-5501","authenticated-orcid":false,"given":"Simone","family":"Marziali","sequence":"additional","affiliation":[{"name":"Division of Neuroradiology Policlinico Casilino Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Morlino","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia","family":"Camerota","sequence":"additional","affiliation":[{"name":"Human Genetics, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianpiero","family":"Tamburrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurosurgery Institute of Neurosurgery, Fondazione Policlinico Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6069-0993","authenticated-orcid":false,"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  San Giovanni Rotondo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piermichele","family":"Paolillo","sequence":"additional","affiliation":[{"name":"Neonatology and Neonatal Intensive Care Policlinico Casilino Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Clinical Genetics, Department of Women's and Children's Health University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[{"name":"Human Genetics, Department of Life, Health and Environmental Sciences University of L'Aquila  L'Aquila Italy"},{"name":"Division of Human Functional Genomics San Raffaele Pisana IRCCS  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,4,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08733"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.05.009"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.08.003"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01884.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017640"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/500273"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01446.x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-2110"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0031650"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-014-1444-2"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-018-4005-5"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24156"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00788-4"},{"volume-title":"GeneReviews\u00ae [Internet]","year":"2020","author":"Van Ravenswaaij\u2010Arts C. 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