دورية أكاديمية
Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome
| العنوان: | Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome |
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| المؤلفون: | Reshma Ramakrishnan, Sayali Santosh Amberkar, Priyanka Gandhi |
| المصدر: | TNOA Journal of Ophthalmic Science and Research, Vol 59, Iss 3, Pp 277-279 (2021) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Ophthalmology |
| مصطلحات موضوعية: | blepharophimosis-ptosis-epicanthus inversus syndrome, congenital nasolacrimal duct obstruction, sensorineural hearing loss, Ophthalmology, RE1-994 |
| الوصف: | Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We report a case of 7-month-old female child who presented to us with watering of both eyes since birth and failure to thrive. Examination revealed peculiarities of BPES with bilateral congenital nasolacrimal duct obstruction (CNLDO) and associated findings of bilateral sensorineural hearing loss (SNHL) and cleft palate. Initially, conservative management followed by probing, cleft palate correction, and V-Y plasty was advised and ptosis correction planned at later age. There are several ocular and nonocular associations with BPES, but CNLDO, cleft palate, and SNHL together have never been reported to the best of our knowledge. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2589-4528 2589-4536 |
| Relation: | http://www.tnoajosr.com/article.asp?issn=2589-4528;year=2021;volume=59;issue=3;spage=277;epage=279;aulast=Ramakrishnan; https://doaj.org/toc/2589-4528; https://doaj.org/toc/2589-4536 |
| DOI: | 10.4103/tjosr.tjosr_8_21 |
| URL الوصول: | https://doaj.org/article/f8f0ecf831d24d4a9c58b1d7226d35b7 |
| رقم الأكسشن: | edsdoj.f8f0ecf831d24d4a9c58b1d7226d35b7 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 25894528 25894536 |
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| DOI: | 10.4103/tjosr.tjosr_8_21 |