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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Bibliographic Details
Published in:Case reports in radiology 2014-01, Vol.2014 (2014), p.1-4
Main Authors: Whitehead, Matthew T., Vezina, Gilbert
Format: Article
Language:English
Subjects:
Anorexia
Case Report
Children & youth
Chromosomes
Defects
Genes
Hearing loss
Mutation
Pituitary gland
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Summary: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.
ISSN:2090-6862
2090-6870
DOI:10.1155/2014/413574