Loading...
Please wait, while we are loading the content...
Similar Documents
De Novo 3q22.3q24 Microdeletion in a Patient With Blepharophimosis–Ptosis–Epicanthus Inversus Syndrome, Dandy-Walker Malformation, and Wisconsin Syndrome
| Content Provider | SAGE Publishing |
|---|---|
| Author | Ramineni, Anand Coman, David |
| Abstract | Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis–ptosis–epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including FOXL2, ZIC1, and ZIC4. This patient provides further evidence for the role of ZIC1 and ZIC4 in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype. |
| Related Links | https://journals.sagepub.com/doi/pdf/10.1177/2329048X16666362?download=true |
| ISSN | 2329048X |
| Volume Number | 3 |
| Journal | Child Neurology Open (CNO) |
| e-ISSN | 2329048X |
| DOI | 10.1177/2329048X16666362 |
| Language | English |
| Publisher | Sage Publications CA |
| Publisher Date | 2016-09-01 |
| Publisher Place | Los Angeles |
| Access Restriction | Open |
| Rights Holder | © SAGE Publications |
| Subject Keyword | Dandy-Walker malformation Wisconsin syndrome microdeletion |
| Content Type | Text |
| Resource Type | Article |
