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

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GEORG THIEME VERLAG KG

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info:eu-repo/semantics/embargoedAccess

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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.

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Cockayne syndrome; Dandy-Walker malformation; child

Journal or Series

JOURNAL OF PEDIATRIC NEUROLOGY

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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.

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