Fig. 1
From: Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
Patient’s photograph at the age of 15 months. A Facial dysmorphia with Cupid’s bow lip. B Doubled crease of M. pectoralis is shown. C Positive decrement of the median nerve upon repetitive stimulation. D Schematic representation of the diagnostic work-up along with clinical findings in our PTHS patient