Case of Waardenburg Shah syndrome in a family with review of literature
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder w...
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| Format: | Article |
| Language: | English |
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Elsevier
2018-09-01
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| Series: | Journal of Otology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1672293018300060 |
| _version_ | 1828195138398060544 |
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| author | Setty.L.N. Chandra Mohan |
| author_facet | Setty.L.N. Chandra Mohan |
| author_sort | Setty.L.N. Chandra Mohan |
| collection | DOAJ |
| description | Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern. Keywords: Waardenburg Shah Syndrome, Hirschsprung disease, Dystopia canthorum |
| first_indexed | 2024-04-12T09:37:21Z |
| format | Article |
| id | doaj.art-ff2a959ba30a4b57b638b7d43b190dcb |
| institution | Directory Open Access Journal |
| issn | 1672-2930 |
| language | English |
| last_indexed | 2024-04-12T09:37:21Z |
| publishDate | 2018-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Otology |
| spelling | doaj.art-ff2a959ba30a4b57b638b7d43b190dcb2022-12-22T03:38:12ZengElsevierJournal of Otology1672-29302018-09-01133105110Case of Waardenburg Shah syndrome in a family with review of literatureSetty.L.N. Chandra Mohan0Tel.: +91 9160491645.; Department of Otolaryngology and Head and Neck Surgery, Mahatma Gandhi Memorial Hospital Warangal, Flat no 46, Bhagya Nagar Apartments, RTC Cross Roads, Hyderabad, 500020, Telangana, IndiaWaardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern. Keywords: Waardenburg Shah Syndrome, Hirschsprung disease, Dystopia canthorumhttp://www.sciencedirect.com/science/article/pii/S1672293018300060 |
| spellingShingle | Setty.L.N. Chandra Mohan Case of Waardenburg Shah syndrome in a family with review of literature Journal of Otology |
| title | Case of Waardenburg Shah syndrome in a family with review of literature |
| title_full | Case of Waardenburg Shah syndrome in a family with review of literature |
| title_fullStr | Case of Waardenburg Shah syndrome in a family with review of literature |
| title_full_unstemmed | Case of Waardenburg Shah syndrome in a family with review of literature |
| title_short | Case of Waardenburg Shah syndrome in a family with review of literature |
| title_sort | case of waardenburg shah syndrome in a family with review of literature |
| url | http://www.sciencedirect.com/science/article/pii/S1672293018300060 |
| work_keys_str_mv | AT settylnchandramohan caseofwaardenburgshahsyndromeinafamilywithreviewofliterature |