Fig. 2

Photographs of the proband, his mother, and 2 uncles. (a–d) The proband had predominant lower limb atrophy, talipes calcaneovarus, and knee flexion contractures. He stood on the ground with his heels and could only walk with the assistance of ankle fixation braces. (e, f) The proband’s mother had milder lower limb atrophy and clubfeet. She was able to walk independently with a waddling gait starting from the age of 8 years old. (g, h) The proband’s 2 uncles had lower limb atrophy and clubfeet