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. Author manuscript; available in PMC: 2022 Apr 1.
Published in final edited form as: Ann N Y Acad Sci. 2020 Sep 2;1490(1):57–76. doi: 10.1111/nyas.14465

Figure 1.

Figure 1.

Signs and symptoms of acromelic dysplasias. Acromelic dysplasias share their musculoskeletal signs and symptoms, but differ in the involvement of other organ systems. All affected genes, with the exception of SMAD4, encode secreted ECM proteins that bind to fibrillin microfibrils and that are implicated in regulating canonical TGF-β and BMP signaling. Several disorders belonging to acromelic dysplasias can be caused by mutations in more than one gene. Panels A–C show a patient diagnosed with GD2 due to an FBN1 mutation at 5 and 15 years of age. Typical features are the “happy face” appearance, short stature, and pseudomuscular build. Panels D and E show a patient with WMS3 due to a mutation in LTBP2. Brachydactyly (D) and upward dislocated lens (E, red arrow) are key features of WMS. Panels A–C are reprinted from Le Goff et al.12 with the permission of Elsevier. Panels D and E are reprinted from Haji-Seyed-Javadi et al.27 with the permission of John Wiley and Sons.