الملخص
Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its complete form, in about 20% cases, which adds for its heterogenisity . Even among people affected in the same family,the features do vary. Unilateral heterochromia that manifests as lighter pigmentation of one iris is associated with Waardenburg syndrome and Parry-Romberg syndrome and less commonly with Hirschsprung disease. A case of ten yrs. old boy with a typical facial profile and hearing loss is reported.
الكلمات المفتاحية
بيانات النشر
- المعرّف الرقمي
- 10.4103/ojo.ojo_51_2014
- المجلة
- المجلة العُمانية لطب العيون, 11(2), 158-160
- الناشر
- منشورات ميدنو
- وصول مفتوح
- وصول مفتوح ذهبي
اقتبس هذه المقالة
APA 7
Rawlani, S. M., Ramtake, R., Dhabarde, A., & Rawlani, S. S. (2018). Waardenburg syndrome: A rare case. Oman Journal of Ophthalmology, 11(2), 158-160. https://doi.org/10.4103/ojo.ojo_51_2014
MLA 9
Rawlani, Shivlal M, et al. "Waardenburg syndrome: A rare case." Oman Journal of Ophthalmology, vol. 11, no. 2, 2018, pp. 158-160. https://doi.org/10.4103/ojo.ojo_51_2014.
شيكاغو (المؤلف–التاريخ)
Rawlani, Shivlal M, Roshani Ramtake, Ajab Dhabarde, and Sudhir S Rawlani. 2018. "Waardenburg syndrome: A rare case." Oman Journal of Ophthalmology 11 (2): 158-160. https://doi.org/10.4103/ojo.ojo_51_2014.
هارفارد
Rawlani, S. M., Ramtake, R., Dhabarde, A. and Rawlani, S. S. (2018) 'Waardenburg syndrome: A rare case', Oman Journal of Ophthalmology, 11(2), pp. 158-160. doi:10.4103/ojo.ojo_51_2014.
فانكوفر
Rawlani SM, Ramtake R, Dhabarde A, Rawlani SS. Waardenburg syndrome: A rare case. Oman Journal of Ophthalmology. 2018;11(2):158-160. doi:10.4103/ojo.ojo_51_2014
IEEE
S. M. Rawlani, R. Ramtake, A. Dhabarde, and S. S. Rawlani, "Waardenburg syndrome: A rare case," Oman Journal of Ophthalmology, vol. 11, no. 2, pp. 158-160, 2018, doi: 10.4103/ojo.ojo_51_2014.