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Chiari I Malformations and the Heritable Disorders of Connective Tissue.

Authors :
Ellington M
Francomano CA
Source :
Neurosurgery clinics of North America [Neurosurg Clin N Am] 2023 Jan; Vol. 34 (1), pp. 61-65.
Publication Year :
2023

Abstract

The heritable disorders of connective tissue (HDCTs) are a heterogeneous group of inherited disorders caused by pathogenic variants in genes encoding a wide range of molecules involved in the structure and function of the extracellular matrix. Currently, more than 450 HDCTs are recognized. These include the Ehlers-Danlos syndrome (EDS), Marfan syndrome, Loeys-Dietz syndrome (LDS), Stickler syndrome, and a wide range of skeletal dysplasias. Recent evidence suggests that people with the HDCTs are at an increased risk of Chiari I malformation (CM1).<br /> (Copyright © 2022 Elsevier Inc. All rights reserved.)

Details

Language :
English
ISSN :
1558-1349
Volume :
34
Issue :
1
Database :
MEDLINE
Journal :
Neurosurgery clinics of North America
Publication Type :
Academic Journal
Accession number :
36424065
Full Text :
https://doi.org/10.1016/j.nec.2022.09.001