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Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disease characterized by generalized arterial tortuosity with aneurysms and dissections in association with craniofacial and skeletal manifestations [1, 2]. Typical… Click to show full abstract
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disease characterized by generalized arterial tortuosity with aneurysms and dissections in association with craniofacial and skeletal manifestations [1, 2]. Typical LDS patients have hypertelorism, bifid uvula or cleft palate but the phenotypic spectrum of LDS is broad and overlaps with Marfan syndrome (MFS) and Ehlers-Danlos syndrome (EDS) [1–3]. The LDS is caused by mutations in genes affecting the canonical transforming growth factor β (TGF-β)
Journal Title: Clinical Neuroradiology
Year Published: 2021
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