Figure 1 | European Journal of Human Genetics

Figure 1

From: Vascular Ehlers–Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family

Figure 1

(a) MR angiography (MRA) of patient III-3, coronal view; Cr: cranial, Ca: caudal, R: right, L: left, thick arrows: internal carotid arteries; thin arrows: vertebral arteries; arrowhead: basilar artery. There is occlusion/subocclusion along the dissected right ICA. The left ICA is ectatic with irregular caliber in the precranial segment. (b) 3T MRA 10 months later reveals an established collateral network along the dissected segment of the right ICA indicating recanalized arterial segment, and also verifies a dissection flap along the ectatic left ICA. The caliber of the right ICA is still smaller than that of the left. (c) MRI of the head, T2-weighted axial view; A: anterior, P: posterior, R: right, L: left, and (d) T1-weighted saggital view from left side. Both views showing thickened cortices bilaterally, predominantly frontal but extending over parietal lobes limited by the central sulci, small gyri and findings consistent with pachy micropolygyria.

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