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...

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Detalles Bibliográficos
Autores principales: Whitehead, Matthew T., Vezina, Gilbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122022/
https://www.ncbi.nlm.nih.gov/pubmed/25126438
http://dx.doi.org/10.1155/2014/413574
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author Whitehead, Matthew T.
Vezina, Gilbert
author_facet Whitehead, Matthew T.
Vezina, Gilbert
author_sort Whitehead, Matthew T.
collection PubMed
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.
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spelling pubmed-41220222014-08-14 Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome Whitehead, Matthew T. Vezina, Gilbert Case Rep Radiol Case Report 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. Hindawi Publishing Corporation 2014 2014-07-13 /pmc/articles/PMC4122022/ /pubmed/25126438 http://dx.doi.org/10.1155/2014/413574 Text en Copyright © 2014 M. T. Whitehead and G. Vezina. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Whitehead, Matthew T.
Vezina, Gilbert
Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122022/
https://www.ncbi.nlm.nih.gov/pubmed/25126438
http://dx.doi.org/10.1155/2014/413574
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