Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome
Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gl...
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Elsevier
2010-10-01
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| Series: | Pediatrics and Neonatology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957210600563 |
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| author | Fong-Fong Lim Yan-Yan Ng Jui-Ming Hu Suh-Jen Chen Pen-Hua Su Jia-Yuh Chen |
| author_facet | Fong-Fong Lim Yan-Yan Ng Jui-Ming Hu Suh-Jen Chen Pen-Hua Su Jia-Yuh Chen |
| author_sort | Fong-Fong Lim |
| collection | DOAJ |
| description | Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported. |
| format | Article |
| id | doaj-art-eaac2bcbba384991b990de7e609fc666 |
| institution | OA Journals |
| issn | 1875-9572 |
| language | English |
| publishDate | 2010-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj-art-eaac2bcbba384991b990de7e609fc6662025-08-20T02:22:02ZengElsevierPediatrics and Neonatology1875-95722010-10-0151529229510.1016/S1875-9572(10)60056-3Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker SyndromeFong-Fong Lim0Yan-Yan Ng1Jui-Ming Hu2Suh-Jen Chen3Pen-Hua Su4Jia-Yuh Chen5Division of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Genetics, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDivision of Neonatology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanTrisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigmentation, dysplasia, and areas of hemorrhage and gliosis are also found in trisomy 18. Dandy-Walker syndrome is a brain malformation that has been reported in association with numerous chromosomal abnormalities, although it has rarely been reported in association with trisomy 18. Here, we present a case of trisomy 18 with ocular pathology and variant of Dandy-Walker syndrome, a combination that has not previously been reported.http://www.sciencedirect.com/science/article/pii/S1875957210600563Dandy-Walker variantdisc colobomapersistent papillary membraneretinal dysplasiatrisomy 18 |
| spellingShingle | Fong-Fong Lim Yan-Yan Ng Jui-Ming Hu Suh-Jen Chen Pen-Hua Su Jia-Yuh Chen Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome Pediatrics and Neonatology Dandy-Walker variant disc coloboma persistent papillary membrane retinal dysplasia trisomy 18 |
| title | Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome |
| title_full | Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome |
| title_fullStr | Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome |
| title_full_unstemmed | Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome |
| title_short | Ocular Findings in a Case of Trisomy 18 With Variant of Dandy-Walker Syndrome |
| title_sort | ocular findings in a case of trisomy 18 with variant of dandy walker syndrome |
| topic | Dandy-Walker variant disc coloboma persistent papillary membrane retinal dysplasia trisomy 18 |
| url | http://www.sciencedirect.com/science/article/pii/S1875957210600563 |
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