Loeys et al. 355 (8): 788, Figure 2 August 24, 2006

Return to Article Add to Personal Archive PowerPoint Help

Figure 2. Characteristics of the Loeys–Dietz Syndrome.

Panel A shows typical facial characteristics of patients with Loeys–Dietz syndrome type I at different ages: blue sclerae, hypertelorism, proptosis, malar flattening, retrognathia, camptodactyly, and arachnodactyly. Panel B shows the facial characteristics of a patient with Loeys–Dietz syndrome type II. The translucency of the skin is evident, with visible veins and distended scars. Panel C shows a patient who had type I with a nonsense mutation (R495X) in TGFBR2, hypertelorism, and bifid uvula. Panel D shows the results of immunostaining of aortic tissue from a patient who was heterozygous for the R495X mutation, revealing increased nuclear accumulation of phosphorylated Smad2 and levels of expression of connective-tissue growth factor (CTGF), both indicative of increased TGF- $beta$ signaling, as compared with an age-matched control.