Publication: A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child
Loading...
Date
Journal Title
Journal ISSN
Volume Title
Publisher
GEORG THIEME VERLAG KG
Access Rights
info:eu-repo/semantics/embargoedAccess
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.
Description
Keywords
Cockayne syndrome; Dandy-Walker malformation; child
Journal or Series
JOURNAL OF PEDIATRIC NEUROLOGY
WoS Q Value
Scopus Q Value
Volume
17
Issue
2
Citation
Islkay, S., Bilgin, B., Karaer, K., & Sirikci, A. (January 01, 2019). A Rare Syndrome and a Rare Association: Dandy-Walker Malformation and Cockayne Syndrome in a Child. Journal of Pediatric Neurology, 17, 2, 85-88.
