دورية أكاديمية
Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology
| العنوان: | Identifying the white forelock for early visual stimulation and speech therapy among X-men (van der Hoeve-Halbertsma-Waardenburg syndrome) in ophthalmology |
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| المؤلفون: | Shruthy Vaishali Ramesh, Prasanna Venkatesh Ramesh, Ramesh Rajasekaran, Meena Kumari Ramesh |
| المصدر: | Kerala Journal of Ophthalmology, Vol 34, Iss 2, Pp 171-173 (2022) |
| بيانات النشر: | Wolters Kluwer Medknow Publications, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Ophthalmology |
| مصطلحات موضوعية: | van der hoeve-halbertsma-waardenburg syndrome, white forelock, x-men, Ophthalmology, RE1-994 |
| الوصف: | A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally. The W-index was 2.38 which was an indication of Type 1 Waardenburg syndrome (WS) with dilated fundus evaluation revealing pigmentary deficit in the retina depicting a orangish hue. The corneal diameter was 9 mm in both eyes. Both the external auditory meatus and external ears appeared normal. The parents who had a history of second-degree consanguineous marriage had visual acuity of 20/20 with normal dark brown irides and normal fundi. Genetic counseling, visual rehabilitation, and auditory evaluation to rule out sensory neural hearing loss were stressed upon for good quality of life, which is mandatory among neonates diagnosed with van der Hoeve-Halbertsma-Waardenburg syndrome. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 0976-6677 40688720 |
| Relation: | http://www.kjophthal.com/article.asp?issn=0976-6677;year=2022;volume=34;issue=2;spage=171;epage=173;aulast=Ramesh; https://doaj.org/toc/0976-6677 |
| DOI: | 10.4103/kjo.kjo_40_21 |
| URL الوصول: | https://doaj.org/article/a110181f75be40688720d334992040e9 |
| رقم الأكسشن: | edsdoj.110181f75be40688720d334992040e9 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 09766677 40688720 |
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| DOI: | 10.4103/kjo.kjo_40_21 |