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

Authors :
Matthew T Whitehead
Gilbert Vezina
Source :
Case Reports in Radiology, Vol 2014 (2014), Case Reports in Radiology
Publication Year :
2014
Publisher :
Hindawi Limited, 2014.

Abstract

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.

Subjects

Subjects :
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology
medicine.medical_specialty
Corpus Callosum Dysgenesis
Microarray
business.industry
lcsh:R895-920
Case Report
General Medicine
medicine.disease
Hypoplasia
Vermian hypoplasia
Tuber cinereum
Brain mri
Medicine
Deletion syndrome
Toddler
business

Details

ISSN :
20906870 and 20906862
Volume :
2014
Database :
OpenAIRE
Journal :
Case Reports in Radiology
Accession number :
edsair.doi.dedup.....b89611d065a44404f618b7bd37e66bbb
Full Text :
https://doi.org/10.1155/2014/413574
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