{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:29:14Z","timestamp":1760142554217,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,9,21]]},"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>We report a case of an antenatal patient who was referred with an anomaly scan of a fetus suspected to have skeletal dysplasia associated with a hypoplastic heart. Genetic counselling was provided, and the opinions of the geneticist and paediatrician were sought. Risk and prognosis stratification were discussed with the couple. Amniocentesis was done as per the Preconception and Prenatal Diagnostic Techniques Act after informed consent. Termination of pregnancy was performed medically at 22 weeks and 2\u2009days as per the Medical Termination of Pregnancy Amendment Act, 2021. On whole exome sequencing of the fetus, a genetic variant was detected, which confirmed a diagnosis of Ellis\u2013van Creveld syndrome. Post-test genetic counselling was done to interpret the consequences of the variant(s), further genetic testing of parents (carriers) and extended carrier screening of family members. Infantogram and foetal echocardiography narrowed our differential diagnoses of skeletal dysplasia.<\/jats:p>","DOI":"10.1136\/bcr-2025-265168","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T10:45:19Z","timestamp":1760093119000},"page":"e265168","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Ellis\u2013van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome"],"prefix":"10.1136","volume":"18","author":[{"given":"Poonam","family":"Gill","sequence":"first","affiliation":[{"name":"Obstetrics & Gynecology, AIIMS Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chandni","family":"Chandni","sequence":"additional","affiliation":[{"name":"Obstetrics & Gynecology, AIIMS Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mriganka","family":"Bordoloi","sequence":"additional","affiliation":[{"name":"Obstetrics & Gynecology, AIIMS Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3359-2239","authenticated-orcid":false,"given":"Rajlaxmi","family":"Mundhra","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology, All India Institute of Medical Sciences - Rishikesh, Rishikesh, Uttarakhand, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,10,10]]},"reference":[{"key":"2025101003451013000_18.10.e265168.1","unstructured":"Da Silva JD , Tkachenko N , Soares AR . Ellis-van creveld syndrome. In: Adam MP , Feldman J , Mirzaa GM , et al , eds. GeneReviews. Seattle (WA): University of Washington, 2023."},{"key":"2025101003451013000_18.10.e265168.2","doi-asserted-by":"publisher","DOI":"10.4103\/0974-620X.60017"},{"key":"2025101003451013000_18.10.e265168.3","doi-asserted-by":"publisher","DOI":"10.1038\/73508"},{"key":"2025101003451013000_18.10.e265168.4","unstructured":"Goldmuntz E , Lin AE , Allen HD , et al . Genetics of congenital heart defects. In: Moss and Adams\u2019 Heart Disease in Infants, Children and Adolescents. Williams and Wilkins, 2008."},{"key":"2025101003451013000_18.10.e265168.5","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"2025101003451013000_18.10.e265168.6","doi-asserted-by":"crossref","DOI":"10.4103\/2156-7514.91132","article-title":"Ellis van creveld syndrome with synpolydactyly, an antenatal diagnosis with postnatal correlation","volume":"1","author":"Kundaragi","year":"2011","journal-title":"J Clin Imaging Sci"},{"key":"2025101003451013000_18.10.e265168.7","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1016\/S1028-4559(10)60101-5","article-title":"Ellis-Van Creveld Syndrome: Prenatal Diagnosis, Molecular Analysis and Genetic Counseling","volume":"49","author":"Chen","year":"2010","journal-title":"Taiwanese Journal of Obstetrics and Gynecology"},{"key":"2025101003451013000_18.10.e265168.8","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1002\/(SICI)1097-0096(200001)28:1<38::AID-JCU6>3.0.CO;2-Z","article-title":"Prenatal sonographic diagnosis of ellis-van creveld syndrome","volume":"28","author":"Tongsong","year":"2000","journal-title":"J Clin Ultrasound"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-265168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T10:45:21Z","timestamp":1760093121000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-265168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10]]},"references-count":8,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2025,10,10]]},"published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1136\/bcr-2025-265168"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-265168","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10]]}}}