{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:35Z","timestamp":1756339415086,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"1","funder":[{"name":"None"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,1,4]]},"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in the <jats:italic>CREBBP<\/jats:italic> or <jats:italic>EBP300<\/jats:italic> genes.<\/jats:p>\n               <jats:p>We present a patient with a hitherto unreported constellation of anterior segment abnormalities, including congenital glaucoma, congenital corneal keloid, cataract, and distinct facial and systemic features including a high-arched palate, low-set posteriorly rotated ears, Caf\u00e9-au-lait spots on the back, broad terminal phalanges of hands and feet, and bilateral cryptorchidism. The characteristic dysgenetic angle features and ultrasound biomicroscopic findings described in this case report show the occurrence of concomitant congenital keloid with glaucoma.<\/jats:p>\n               <jats:p>Genetic testing revealed a heterozygous one-base pair duplication in exon 3 of the <jats:italic>CREBBP<\/jats:italic> gene (c.886dupC), a novel frameshift pathogenic mutation in the <jats:italic>CREBBP<\/jats:italic> gene that has not been previously reported in a clinical setting.<\/jats:p>","DOI":"10.1136\/bcr-2022-251543","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T11:05:51Z","timestamp":1674039951000},"page":"e251543","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <i>CREBBP<\/i> gene"],"prefix":"10.1136","volume":"16","author":[{"given":"Sagarika","family":"Snehi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anupriya","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9175-5497","authenticated-orcid":false,"given":"Sushmita","family":"Kaushik","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,1,18]]},"reference":[{"key":"2025082702201153000_16.1.e251543.1","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1016\/j.jpeds.2022.06.038","article-title":"Rubinstein-Taybi syndrome: presentation in the first month of life","volume":"249","author":"Levetan","year":"2022","journal-title":"J Pediatr"},{"key":"2025082702201153000_16.1.e251543.2","first-page":"92","article-title":"[Rubinstein-Taybi syndrome--a report of three cases]","volume":"5","author":"Chen","year":"1989","journal-title":"Yan Ke Xue Bao"},{"key":"2025082702201153000_16.1.e251543.3","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0110-1"},{"key":"2025082702201153000_16.1.e251543.4","first-page":"26","article-title":"[Ocular signs in Rubinstein-Taybi's syndrome]","volume":"53","author":"Bogd\u0103nici","year":"2001","journal-title":"Oftalmologia"},{"key":"2025082702201153000_16.1.e251543.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082702201153000_16.1.e251543.6","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-53889-1_3"},{"key":"2025082702201153000_16.1.e251543.7","unstructured":"CREBBP CREB binding protein [Homo sapiens (human)] - Gene - NCBI [Internet]. Available: https:\/\/www.ncbi.nlm.nih.gov\/gene\/1387 [Accessed 22 De 2022]."},{"key":"2025082702201153000_16.1.e251543.8","doi-asserted-by":"publisher","DOI":"10.1038\/376348a0"},{"key":"2025082702201153000_16.1.e251543.9","unstructured":"National Center for Biotechnology Information . ClinVar; [VCV000594609.3]. Available: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/VCV000594609.3"},{"key":"2025082702201153000_16.1.e251543.10","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/0002-9394(68)92081-3","article-title":"Keloid of the cornea","volume":"66","author":"Farkas","year":"1968","journal-title":"Am J Ophthalmol"},{"key":"2025082702201153000_16.1.e251543.11","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1097\/00003226-200201000-00028","article-title":"Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome","volume":"21","author":"Rao","year":"2002","journal-title":"Cornea"},{"key":"2025082702201153000_16.1.e251543.12","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1007\/BF02175893","article-title":"Corneal keloids--a histopathological study","volume":"218","author":"Lahav","year":"1982","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"2025082702201153000_16.1.e251543.13","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1111\/j.1755-3768.1989.tb07113.x","article-title":"Congenital corneal keloid","volume":"192","author":"Weiner","year":"1989","journal-title":"Acta Ophthalmol Suppl"},{"key":"2025082702201153000_16.1.e251543.14","doi-asserted-by":"crossref","DOI":"10.33448\/rsd-v10i9.17607","article-title":"Cafe-Au-Lait spots as a clinical sign of syndromes","volume":"10","author":"Carvalho","year":"2021","journal-title":"Res Soc Dev"},{"key":"2025082702201153000_16.1.e251543.15","doi-asserted-by":"crossref","DOI":"10.1186\/s12886-016-0372-4","article-title":"Corneal keloid: four case reports of clinicopathological features and surgical outcome","volume":"16","author":"Lee","year":"2016","journal-title":"BMC Ophthalmol"},{"key":"2025082702201153000_16.1.e251543.16","doi-asserted-by":"crossref","first-page":"248","DOI":"10.3928\/0191-3913-19950701-12","article-title":"Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome","volume":"32","author":"Brei","year":"1995","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"2025082702201153000_16.1.e251543.17","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.84.10.1177"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2022-251543","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:20:22Z","timestamp":1756286422000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2022-251543"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":17,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,1,18]]},"published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1136\/bcr-2022-251543"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2022-251543","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2023,1]]}}}