{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T00:16:26Z","timestamp":1756253786946,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"8","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,4]]},"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>This report presents a case of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) identified in a term neonate. This patient presented with the four typical ophthalmic signs: short horizontal palpebral fissures (blepharophimosis), impaired levator palpebrae superioris muscle function leading to drooping of upper eyelids (ptosis), skin folding on the medial lower eyelid ascending to the upper eyelid (epicanthus inversus) and increased medial intercanthal distance (telecanthus). On genetic analysis, a polyalanine (polyAla) tract expansion in the <jats:italic>FOXL2<\/jats:italic> gene was identified. Through this report, we highlight the importance of understanding the limitations of different genetic tests when investigating diseases with polyalanine tract expansion mutations such as BPES.<\/jats:p>","DOI":"10.1136\/bcr-2025-265553","type":"journal-article","created":{"date-parts":[[2025,8,26]],"date-time":"2025-08-26T14:20:20Z","timestamp":1756218020000},"page":"e265553","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in <i>FOXL2:<\/i> diagnostic challenges with NGS"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-7545-301X","authenticated-orcid":false,"given":"Harshini","family":"Hariram","sequence":"first","affiliation":[{"name":"School of Medical Science, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khadijah","family":"Rafi'ee","sequence":"additional","affiliation":[{"name":"KK Research Centre, KK Women's and Children\u2019s Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiin Ying","family":"Lim","sequence":"additional","affiliation":[{"name":"Genetics Service, KK Women's and Children\u2019s Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7704-1917","authenticated-orcid":false,"given":"Sylvia","family":"Kam","sequence":"additional","affiliation":[{"name":"Genetics Service, KK Women's and Children\u2019s Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunny Yu","family":"Shen","sequence":"additional","affiliation":[{"name":"Oculoplastic Department, Singapore National Eye Centre, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seshasai","family":"Sudarshan","sequence":"additional","affiliation":[{"name":"Ophthalmology Service, KK Women's and Children\u2019s Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angeline","family":"Lai","sequence":"additional","affiliation":[{"name":"Genetics Service, KK Women's and Children\u2019s Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-6058","authenticated-orcid":false,"given":"Ene Choo","family":"Tan","sequence":"additional","affiliation":[{"name":"KK Research Centre, KK Women's and Children\u2019s Hospital, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,8,26]]},"reference":[{"key":"2025082607200870000_18.8.e265553.1","unstructured":"Online Mendelian Inheritance in Man, OMIM . Blepharophimosis, ptosis, and epicanthus inversus syndrome; BPES. Johns Hopkins University, Baltimore, MD; 2024. Available: https:\/\/omim.org\/entry\/110100"},{"key":"2025082607200870000_18.8.e265553.2","unstructured":"Verdin H , Matton C , De Baere E . Blepharophimosis, ptosis, and epicanthus inversus syndrome. In: GeneReviews. 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