Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of ny...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2017-03-01
|
| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/9466/24499_CE[Ra1]_F(DK)_PF1(P_MS)_PFA(DK)_PF2(NE_SY_DK).pdf |
| _version_ | 1818503288375476224 |
|---|---|
| author | Mahendra K Singh Shrinkhal Sidharth Pradhan Priyanko Chakraborty |
| author_facet | Mahendra K Singh Shrinkhal Sidharth Pradhan Priyanko Chakraborty |
| author_sort | Mahendra K Singh |
| collection | DOAJ |
| description | Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly,
central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who
presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the
other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin
A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome. |
| first_indexed | 2024-12-10T21:22:03Z |
| format | Article |
| id | doaj.art-64d87bb7b8664c11bab8c345e6c94125 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-10T21:22:03Z |
| publishDate | 2017-03-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-64d87bb7b8664c11bab8c345e6c941252022-12-22T01:33:05ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-03-01113ND01ND0210.7860/JCDR/2017/24499.9466Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic SymptomsMahendra K Singh0Shrinkhal1Sidharth Pradhan2Priyanko Chakraborty3Professor and Head, Department of Ophthalmology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.Junior Resident, Department of Ophthalmology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.Junior Resident, Department of Otorhinolaryngology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.Junior Resident, Department of Otorhinolaryngology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India.Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome.https://jcdr.net/articles/PDF/9466/24499_CE[Ra1]_F(DK)_PF1(P_MS)_PFA(DK)_PF2(NE_SY_DK).pdfhearing losspostaxial polydactylyrod-cone dystrophyserous otitis media |
| spellingShingle | Mahendra K Singh Shrinkhal Sidharth Pradhan Priyanko Chakraborty Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms Journal of Clinical and Diagnostic Research hearing loss postaxial polydactyly rod-cone dystrophy serous otitis media |
| title | Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms |
| title_full | Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms |
| title_fullStr | Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms |
| title_full_unstemmed | Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms |
| title_short | Bardet Biedl Syndrome – A Report of Two Cases with Otolaryngologic Symptoms |
| title_sort | bardet biedl syndrome a report of two cases with otolaryngologic symptoms |
| topic | hearing loss postaxial polydactyly rod-cone dystrophy serous otitis media |
| url | https://jcdr.net/articles/PDF/9466/24499_CE[Ra1]_F(DK)_PF1(P_MS)_PFA(DK)_PF2(NE_SY_DK).pdf |
| work_keys_str_mv | AT mahendraksingh bardetbiedlsyndromeareportoftwocaseswithotolaryngologicsymptoms AT shrinkhal bardetbiedlsyndromeareportoftwocaseswithotolaryngologicsymptoms AT sidharthpradhan bardetbiedlsyndromeareportoftwocaseswithotolaryngologicsymptoms AT priyankochakraborty bardetbiedlsyndromeareportoftwocaseswithotolaryngologicsymptoms |