case_images: PMC2654037_01
case_images: Proband at 5 months of age (A,B) and 6 days of age (C). Note myopathic face.
case_images: 1755-8166-2-2-1.jpg
case_images: PMC2654037_01_1755-8166-2-2-1.jpg
case_images: F1
case_images: Upon physical examination, the patient displayed minor dysmorphic features including a myopathic face (Fig 1).