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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Figure 1

Clinical and radiographic features of the two LDS Patients. A) Phenotype of Patient 1, showing facial dysmorphisms: dolichocephaly, hypoplastic alae nasi, and micro/retrognathia; marfanoid habitus, muscular hypotrophy, mild thoracic scoliosis, and pes planus. B) Patient 2: Ascending aorta dilatation (i) and MRI axial T1 spin-echo images of the ascending aorta at the level of re-implanted coronary arteries, before (ii) and after (iii) gadolinium: a periaortic collection is visible (arrows), with contrast medium outside the aortic graft, due to detachment of re-implanted left coronary artery. C) Translucent skin with subcutaneous visible veins and flat feet in Patient 2.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172