Figure 4

Patient 3 at the age of 15. This patient presented with dystrophic features (130 cm, 20 kg) and microcephaly (49 cm), facial dysfmorfism, microcornea and bilateral nystagmus. Note the severe contractures, scoliosis and pectus deformities and also the generalized muscle atrophy. He was not able to walk nor even stand [13].