Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 dele...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2014-01-01
|
| Series: | Case Reports in Radiology |
| Online Access: | http://dx.doi.org/10.1155/2014/413574 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832564982000123904 |
|---|---|
| author | Matthew T. Whitehead Gilbert Vezina |
| author_facet | Matthew T. Whitehead Gilbert Vezina |
| author_sort | Matthew T. Whitehead |
| collection | DOAJ |
| description | A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation. |
| format | Article |
| id | doaj-art-a5fc12b7b9a7469ab85e82d5ea7c94b0 |
| institution | Kabale University |
| issn | 2090-6862 2090-6870 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Radiology |
| spelling | doaj-art-a5fc12b7b9a7469ab85e82d5ea7c94b02025-02-03T01:09:47ZengWileyCase Reports in Radiology2090-68622090-68702014-01-01201410.1155/2014/413574413574Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion SyndromeMatthew T. Whitehead0Gilbert Vezina1Department of Radiology, Children’s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USADepartment of Radiology, Children’s National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USAA developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation.http://dx.doi.org/10.1155/2014/413574 |
| spellingShingle | Matthew T. Whitehead Gilbert Vezina Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome Case Reports in Radiology |
| title | Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome |
| title_full | Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome |
| title_fullStr | Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome |
| title_full_unstemmed | Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome |
| title_short | Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome |
| title_sort | tuber cinereum diverticula in a 28 month old with xq21 deletion syndrome |
| url | http://dx.doi.org/10.1155/2014/413574 |
| work_keys_str_mv | AT matthewtwhitehead tubercinereumdiverticulaina28montholdwithxq21deletionsyndrome AT gilbertvezina tubercinereumdiverticulaina28montholdwithxq21deletionsyndrome |