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Congenital anomalies may include cardiac, genitourinary and central nervous system malformations whereas congenital diaphragmatic hernia (CDH) is rarely reported. The genes usually involved in CSS pathogenesis are <jats:italic>ARID1B<\/jats:italic> (most frequently), <jats:italic>SMARCA4<\/jats:italic>, <jats:italic>SMARCB1<\/jats:italic>, <jats:italic>ARID1A<\/jats:italic>, <jats:italic>SMARCE1<\/jats:italic>, <jats:italic>DPF2<\/jats:italic>, and <jats:italic>PHF6<\/jats:italic>. Here, we present two cases of CSS presenting with CDH, for whom Whole Exome Sequencing (WES) identified two distinct de novo heterozygous causative variants, one in <jats:italic>ARID1B<\/jats:italic> (case 1) and one in <jats:italic>SMARCA4<\/jats:italic> (case 2). Due to the rarity of CDH in CSS, in both cases the occurrence of CDH did not represent a predictive sign of CSS but, on the other hand, prompted genetic testing before (case 1) or independently (case 2) from the clinical hypothesis of CSS. We provide further evidence of the association between CSS and CDH, reviewed previous cases from literature and discuss possible functional links to related conditions.<\/jats:p>","DOI":"10.1002\/ajmg.a.63054","type":"journal-article","created":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T10:58:33Z","timestamp":1669201113000},"page":"605-611","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases"],"prefix":"10.1002","volume":"191","author":[{"given":"Martina","family":"Rimoldi","sequence":"first","affiliation":[{"name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Medical Genetics Unit  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berardo","family":"Rinaldi","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Medical Genetics 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