ArticleCase reports in radiology2014
Tuber cinereum diverticula in a 28-month-old with xq21 deletion syndrome.
Article in Case reports in radiology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings.Diagnostic and interventional radiology (Ankara, Turkey) · 2022Review
- A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.AJNR. American journal of neuroradiology · 2020Article
- MR Imaging Findings in Xp21.2 Duplication Syndrome.Journal of radiology case reports · 2016Article
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Authors and funding
2 authors.
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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.
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