Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome

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...

Full description

Bibliographic Details
Main Authors: Matthew T. Whitehead, Gilbert Vezina
Format: Article
Language:English
Published: Hindawi Limited 2014-01-01
Series:Case Reports in Radiology
Online Access:http://dx.doi.org/10.1155/2014/413574
id doaj-a5fc12b7b9a7469ab85e82d5ea7c94b0
record_format Article
spelling doaj-a5fc12b7b9a7469ab85e82d5ea7c94b02020-11-24T22:35:43ZengHindawi LimitedCase 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
collection DOAJ
language English
format Article
sources DOAJ
author Matthew T. Whitehead
Gilbert Vezina
spellingShingle Matthew T. Whitehead
Gilbert Vezina
Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
Case Reports in Radiology
author_facet Matthew T. Whitehead
Gilbert Vezina
author_sort Matthew T. Whitehead
title 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_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_sort tuber cinereum diverticula in a 28-month-old with xq21 deletion syndrome
publisher Hindawi Limited
series Case Reports in Radiology
issn 2090-6862
2090-6870
publishDate 2014-01-01
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.
url http://dx.doi.org/10.1155/2014/413574
work_keys_str_mv AT matthewtwhitehead tubercinereumdiverticulaina28montholdwithxq21deletionsyndrome
AT gilbertvezina tubercinereumdiverticulaina28montholdwithxq21deletionsyndrome
_version_ 1725723040008896512

Similar Items