Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype
| dc.contributor.author | Kaba, Sultan | |
| dc.contributor.author | Dogan, Murat | |
| dc.contributor.author | Bulan, Keziban | |
| dc.contributor.author | Demir, Nihat | |
| dc.contributor.author | Uner, Abdurrahman | |
| dc.contributor.author | Bulut, Mehmet Deniz | |
| dc.contributor.author | Kocaman, Selami | |
| dc.date.accessioned | 2025-05-10T17:40:17Z | |
| dc.date.available | 2025-05-10T17:40:17Z | |
| dc.date.issued | 2016 | |
| dc.description | Bala, Keziban Asli/0000-0001-8755-7714; Uner, Abdurrahman/0000-0002-7898-6469; Demir, Nihat/0000-0003-3287-7221 | en_US |
| dc.description.abstract | We present a 3-month-old girl who displayed typical clinical characteristics of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). She was referred to our clinic with an initial diagnosis of Down syndrome. Clinical features of elevated follicle stimulating hormone and low estradiol levels in the case were diagnosed as BPES syndrome and were consistent with BPES type 2. To date, there are no cases of BPES with cleft palate and cardiomyopathy, suggesting that these novel findings can be part of this condition. | en_US |
| dc.identifier.doi | 10.1597/15-032 | |
| dc.identifier.issn | 1055-6656 | |
| dc.identifier.issn | 1545-1569 | |
| dc.identifier.scopus | 2-s2.0-85045869289 | |
| dc.identifier.uri | https://doi.org/10.1597/15-032 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14720/15162 | |
| dc.language.iso | en | en_US |
| dc.publisher | Alliance Communications Group Division Allen Press | en_US |
| dc.rights | info:eu-repo/semantics/closedAccess | en_US |
| dc.subject | Bpes | en_US |
| dc.subject | Cardiomyopathy | en_US |
| dc.subject | Cleft Palate | en_US |
| dc.subject | Novel Associations | en_US |
| dc.subject | Ovarian Failure | en_US |
| dc.title | Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Expanding the Phenotype | en_US |
| dc.type | Article | en_US |
| dspace.entity.type | Publication | |
| gdc.author.id | Bala, Keziban Asli/0000-0001-8755-7714 | |
| gdc.author.id | Uner, Abdurrahman/0000-0002-7898-6469 | |
| gdc.author.id | Demir, Nihat/0000-0003-3287-7221 | |
| gdc.author.scopusid | 55570979200 | |
| gdc.author.scopusid | 14526773500 | |
| gdc.author.scopusid | 57189220861 | |
| gdc.author.scopusid | 55598145000 | |
| gdc.author.scopusid | 7004442897 | |
| gdc.author.scopusid | 37116740800 | |
| gdc.author.scopusid | 37116740800 | |
| gdc.author.wosid | Demi̇r, Ni̇hat/Gry-3625-2022 | |
| gdc.author.wosid | Bulut, Mehmet/Kjl-4135-2024 | |
| gdc.author.wosid | Bala, Keziban Aslı/Meo-8657-2025 | |
| gdc.author.wosid | Bala, Keziban Asli/H-1307-2019 | |
| gdc.coar.access | metadata only access | |
| gdc.coar.type | text::journal::journal article | |
| gdc.description.department | T.C. Van Yüzüncü Yıl Üniversitesi | en_US |
| gdc.description.departmenttemp | [Kaba, Sultan; Dogan, Murat; Bulan, Keziban; Demir, Nihat; Uner, Abdurrahman; Kocaman, Selami] Yuzuncu Yil Univ, Sch Med, Dept Pediat, TR-65100 Van, Turkey; [Bulut, Mehmet Deniz] Yuzuncu Yil Univ, Sch Med, Dept Radiol, Van, Turkey | en_US |
| gdc.description.endpage | 735 | en_US |
| gdc.description.issue | 6 | en_US |
| gdc.description.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| gdc.description.scopusquality | Q2 | |
| gdc.description.startpage | 732 | en_US |
| gdc.description.volume | 53 | en_US |
| gdc.description.woscitationindex | Science Citation Index Expanded | |
| gdc.description.wosquality | Q4 | |
| gdc.identifier.pmid | 26506042 | |
| gdc.identifier.wos | WOS:000388005700017 | |
| gdc.index.type | WoS | |
| gdc.index.type | Scopus | |
| gdc.index.type | PubMed |