{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T00:02:44Z","timestamp":1793664164751,"version":"4.5.1"},"reference-count":6,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,1,3]]},"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>Harlequin ichthyosis (HI) is an extremely rare disease with a prevalence of less than 1\/300\u2009000 live newborns and no more than 100 cases reported worldwide. It corresponds to a genodermatoses autosomal recessive inheritance, typically, with postnatal recognition due to the complexity of prenatal diagnosis. Advances in prenatal genetic testing allow sequencing of the affected gene and confirmation of the diagnosis after recognition of ultrasound markers. The prenatal acknowledgement of the disease significantly marks the course of the pregnancy; considering the perinatal high risk and neonatal mortality, this entity can be classified as lethal. Taking into account the legislation of each country, the possibility of pregnancy termination should be considered as an acceptable option. We present a case of prenatally diagnosed HI in the first ultrasound evaluation by the Maternal Fetal Medicine unit at 29 weeks of gestation, in which after counselling to the parents, the interruption of the gestation was decided.<\/jats:p>","DOI":"10.1136\/bcr-2023-256859","type":"journal-article","created":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T02:30:20Z","timestamp":1705458620000},"page":"e256859","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Harlequin ichthyosis, prenatal diagnosis: the ultrasound recognition"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5615-1110","authenticated-orcid":false,"given":"Ricardo Alfonso","family":"Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Maternal Fetal Medicine Unit, El Bosque University Faculty of Medicine, Bogota, Colombia"},{"name":"Maternal Fetal Medicine Unit, Fundacion Universitaria de Ciencias de la Salud, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Veronica","family":"Ojeda","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Unit, Universidad El Bosque, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalia Andrea","family":"Nova","sequence":"additional","affiliation":[{"name":"Universidad El Bosque, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard Jose","family":"Prasca","sequence":"additional","affiliation":[{"name":"Universidad El Bosque, Bogota, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,1,16]]},"reference":[{"key":"2026090804300542000_17.1.e256859.1","doi-asserted-by":"crossref","DOI":"10.21037\/atm-20-8223","article-title":"Prenatal diagnosis of harlequin Ichthyosis by ultrasonography: a case report","volume":"9","author":"Zhou","year":"2021","journal-title":"Ann Transl Med"},{"key":"2026090804300542000_17.1.e256859.2","doi-asserted-by":"crossref","unstructured":"Spingler T , Wiechers C , Hoopmann M , et al . Prenatal diagnosis of a fetal harlequin Ichthyosis. Arch Gynecol Obstet July 25, 2023. doi:10.1007\/s00404-023-07164-9","DOI":"10.1007\/s00404-023-07164-9"},{"key":"2026090804300542000_17.1.e256859.3","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2020-235225","article-title":"Case report: harlequin Ichthyosis from birth to 12 years","volume":"13","author":"Heap","year":"2020","journal-title":"BMJ Case Rep"},{"key":"2026090804300542000_17.1.e256859.4","doi-asserted-by":"crossref","unstructured":"Zhou Y , Li L , Wang L , et al . Prenatal diagnosis of a rare variant of harlequin Ichthyosis with literature review. BMC Med Imaging 2021;21. doi:10.1186\/s12880-021-00586-4","DOI":"10.1186\/s12880-021-00586-4"},{"key":"2026090804300542000_17.1.e256859.5","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2020.608196","article-title":"Case report: prenatal diagnosis of a fetus with harlequin Ichthyosis identifies novel compound heterozygous variants: a case report","volume":"11","author":"Liu","year":"2020","journal-title":"Front Genet"},{"key":"2026090804300542000_17.1.e256859.6","unstructured":"Cl\u00ednico C , Adolfo G , Montes \u00c1 , et al . Harlequin Ichthyosis: case report from Honduras and review of literature. Rev Med Hondur 2011;79."}],"updated-by":[{"DOI":"10.1136\/bcr-2023-256859corr1","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T00:00:00Z","timestamp":1788825600000}}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-256859","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T11:30:15Z","timestamp":1788867015000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-256859"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":6,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,16]]},"published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1136\/bcr-2023-256859"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-256859","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1]]}}}