{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:23Z","timestamp":1756339403949,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"11","funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203930\/B\/16\/Z"],"award-info":[{"award-number":["203930\/B\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001590","name":"Health Research Board","doi-asserted-by":"publisher","award":["203930\/B\/16\/Z"],"award-info":[{"award-number":["203930\/B\/16\/Z"]}],"id":[{"id":"10.13039\/501100001590","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,10,30]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:p>We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.<\/jats:p>\n               <jats:p>Global developmental delay is a common presentation to general paediatric and community paediatric clinics. This prompts the search for an aetiology to describe the child\u2019s constellation of symptoms which often consists of a chromosomal microarray, neuroimaging and investigations for an inborn error of metabolism. With developments in genetic testing such as the reducing cost of clinical exome sequencing or whole-exome sequencing, could these testing strategies offer a more comprehensive first line test?<\/jats:p>\n               <jats:p>This case not only demonstrates the features of cardiofaciocutaneous syndrome type 3 but the added value of modern genetic technologies in the diagnosis of children with global developmental delay.<\/jats:p>","DOI":"10.1136\/bcr-2022-251871","type":"journal-article","created":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T06:50:20Z","timestamp":1667976620000},"page":"e251871","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental 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Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5859-097X","authenticated-orcid":false,"given":"Taha Ibrahim","family":"Yousif","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Midland Regional Hospital, Mullingar, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,11,8]]},"reference":[{"key":"2025082702272968000_15.11.e251871.1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.256"},{"key":"2025082702272968000_15.11.e251871.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"2025082702272968000_15.11.e251871.3","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1002\/ajmg.a.35292","article-title":"Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological 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