{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:10:05Z","timestamp":1756379405161,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,4,8]]},"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>Pterygium is a benign, wing-shaped fibrovascular overgrowth of subconjunctival tissue that can encroach over the cornea. This condition usually occurs in individuals aged 20\u201340 years but is rarely seen in children. We report a case of an infant with Rubenstein-Taybi syndrome presenting with nebulo-macular corneal opacity and congenital pterygium. On examination under anaesthesia, bilateral infero-nasal nebulo-macular corneal opacity (6 \u00d7 5\u2009mm) with a whitish pink tissue originating from nasal bulbar conjunctiva was noticed. The probe test was negative for this tissue. To the best of our knowledge, only two other cases of congenital pterygium have been reported in the literature. The presence of this anomaly supports the hypothesis of genetic factors having a role in the development of pterygium.<\/jats:p>","DOI":"10.1136\/bcr-2023-257962","type":"journal-article","created":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T03:45:22Z","timestamp":1713584722000},"page":"e257962","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5413-4811","authenticated-orcid":false,"given":"Dewang","family":"Angmo","sequence":"first","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanmay","family":"Thulkar","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ekta","family":"Shaw","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0057-9265","authenticated-orcid":false,"given":"Nitika","family":"Beri","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,4,19]]},"reference":[{"key":"2025082803402355000_17.4.e257962.1","unstructured":"Sarkar P , Tripathy K . Pterygium. [Updated2023Feb22]. in: Statpearls [Internet]. treasure Island (FL). StatPearls Publishing; 2023. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK558907\/"},{"key":"2025082803402355000_17.4.e257962.2","doi-asserted-by":"crossref","first-page":"968","DOI":"10.3390\/genes12070968","article-title":"Rubinstein-Taybi syndrome: a model of epigenetic disorder","volume":"12","author":"Van Gils","year":"2021","journal-title":"Genes (Basel)"},{"key":"2025082803402355000_17.4.e257962.3","doi-asserted-by":"crossref","first-page":"161","DOI":"10.4103\/0971-6866.100751","article-title":"Rubinstein-Taybi syndrome: clinical profile of 11 patients and review of literature","volume":"18","author":"Kumar","year":"2012","journal-title":"Indian J Hum Genet"},{"key":"2025082803402355000_17.4.e257962.4","doi-asserted-by":"crossref","DOI":"10.1186\/s13052-015-0110-1","article-title":"Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management","volume":"41","author":"Milani","year":"2015","journal-title":"Ital J Pediatr"},{"key":"2025082803402355000_17.4.e257962.5","unstructured":"Stevens CA . Rubinstein-Taybi syndrome 2002 Aug 30 [updated 2019 Aug 22]. In: Adam MP , Mirzaa GM , Pagon RA , eds. GeneReviews\u00ae [Internet]. 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