Chiari I Malformations and the Heritable Disorders of Connective Tissue.

Meghan Ellington, Clair A Francomano

Journal: Neurosurgery clinics of North America 2022;34(1):61-65

PMID: 36424065

Full Text on Elsevier Science View on PubMed

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).

Address: Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, IB 130, Indianapolis, IN 46202, USA.; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, IB 130, Indianapolis, IN 46202, USA. Electronic address: [email protected].

DOI: 10.1016/j.nec.2022.09.001

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MeSH Terms: Humans, Connective Tissue, Connective Tissue Diseases, Loeys-Dietz Syndrome, Retinal Detachment, Arthritis