Publication:
A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child

No Thumbnail Available

Date

2019

Journal Title

Journal ISSN

Volume Title

Publisher

Georg Thieme Verlag

Research Projects

Organizational Units

Journal Issue

Abstract

Cockayne syndrome is a rare autosomal recessive, neurodegenerative disorder characterized by a broad spectrum of clinical symptoms. Herein, we will describe a patient diagnosed with Cockayne syndrome by genetic testing who was also determined to be having Dandy-Walker malformation in brain imaging. In this article, we aimed to highlight the general characteristic findings of Cockayne syndrome and to report the togetherness of these two rare entities. © 2022 Elsevier B.V., All rights reserved.

Description

Keywords

Citation

Endorsement

Review

Supplemented By

Referenced By