Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.

ABSTRACT:

Background and purpose

Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifestations that would warrant follow-up imaging.

Materials and methods

Two neuroradiologists retrospectively reviewed CT angiography (CTA), MR imaging, and plain film studies related to the head and neck in 25 patients ranging from 1 to 55 years of age, all of whom had positive genetic testing and clinical characteristics of LDS. Arterial tortuosity was evaluated by subjective assessment of 2D and 3D volumetric CTA and MR angiography data. Craniosyn

SUBMITTER: Rodrigues VJ 

PROVIDER: S-EPMC7051610 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature