Figure 1.

(a, b) Patient with heterozygous novel variant in ACTA1 has rigid spine and pes cavus. (c, d) Patient with heterozygous reported variant in ACTA1 had flaccid posture with minimal skin creases. Chest X‐ray demonstrated bilateral chest drains with residual chylothorax on the right side. (e) Patient with compound heterozygous variants in SELENON has rigid spine. (f, g) Patient with compound heterozygous variants in LAMA2 has the axial view of her T2 weighted MRI brain images shown diffuse cerebral white matter signal changes compatible to merosin‐deficient congenital muscular dystrophy. (h, i) Patient with compound heterozygous loss‐of‐function variants in the MTMR2, with facial weakness and marked finger contractures with distal hand wasting. (j) Patient with heterozygous reported pathogenic variant in TGFB1 with thickening of the diaphyseal bones (white arrows) on her X‐ray of bilateral femurs