Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations
Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spon...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2016/3198597 |
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| author | Manisha Goyal Seema Kapoor Shiro Ikegawa Gen Nishimura |
| author_facet | Manisha Goyal Seema Kapoor Shiro Ikegawa Gen Nishimura |
| author_sort | Manisha Goyal |
| collection | DOAJ |
| description | Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome. |
| format | Article |
| id | doaj-art-25a5ca2f17644ad88354baa1ddf565ff |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-25a5ca2f17644ad88354baa1ddf565ff2025-02-03T05:51:43ZengWileyCase Reports in Pediatrics2090-68032090-68112016-01-01201610.1155/2016/31985973198597Stickler Syndrome Type 1 with Short Stature and Atypical Ocular ManifestationsManisha Goyal0Seema Kapoor1Shiro Ikegawa2Gen Nishimura3Rare Disease Clinic, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, IndiaDivision of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, IndiaLaboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, JapanDepartment of Paediatric Imaging, Tokyo Metropolitan Children’s Medical Center, Fuchu, Tokyo, JapanStickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the COL2A1 gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in COL2A1 gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.http://dx.doi.org/10.1155/2016/3198597 |
| spellingShingle | Manisha Goyal Seema Kapoor Shiro Ikegawa Gen Nishimura Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations Case Reports in Pediatrics |
| title | Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations |
| title_full | Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations |
| title_fullStr | Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations |
| title_full_unstemmed | Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations |
| title_short | Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations |
| title_sort | stickler syndrome type 1 with short stature and atypical ocular manifestations |
| url | http://dx.doi.org/10.1155/2016/3198597 |
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