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. 2020 Apr 19;7(5):846–854. doi: 10.1002/acn3.51031

Figure 1.

Figure 1

Clinical presentation and MRI features. (A–F) P1’s clinical features. (A) Mildly elongated face with bilateral ptosis and low‐set ears. (B) High‐arched palate. (C) Deficit in arm elevation (45°). (D) Scapular winging. (E) Distal joint hyperlaxity. (F) Prominent hyperkeratosis pilaris. (G–J) P2’s clinical features. (G) Mild ptosis without other facial dysmorphisms. (H) High‐arched palate. (I) Pelvic muscle proximal weakness; the patient cannot squat. Note the extremely thin muscle bulk. (J) Thin muscle bulk, mild scapular winging. (K and L) Three‐dimensional volume rendering reconstruction of MRI sequences in P1 (K1‐11) and P2 (L12‐22) with anterior, lateral and posterior views. These views allow a global analysis of the patients’ phenotype. Selection of 11 slices among the 350 mm thick, contiguous axial slices from head to toe; DIXON T2 (IDEAL T2) in‐phase images. P1 is older and the disease is more advanced with more fat infiltration and atrophy compared with P2. The distribution of involved muscles is similar but less pronounced in P2. Only one muscle is more fatty ‐infiltrated in P2. The upper part of the semi‐tendinous muscle is as white as subcutaneous fat in P1 (K‐7). The sternocleidomastoid, ileo‐psoas, gracilis, adductor magnus and common toe extensors are less affected by the disease.