case_images: PMC3759778_01
case_images: Photograph of the Patient 2 Demonstrating Posture
case_images: hepatmon-13-06-10124-g001.jpg
case_images: PMC3759778_01_hepatmon-13-06-10124-g001.jpg
case_images: fig3650
case_images: The second patient was the brother of the first child who was visited by us at 4.4 years of age (Figure 2).
case_images: Liver Enzymes Fluctuations in Different Ages of Patient # 2
case_images: hepatmon-13-06-10124-i002.jpg
case_images: PMC3759778_01_hepatmon-13-06-10124-i002.jpg
case_images: fig3649
case_images: Fluctuations in liver enzymes are seen in different ages (Table 1, Figure 3).
case_images: Radiographic Findings: X-ray Films Demonstrating Beaking of Thoracic Vertebrae, Generalized Epiphyseal Dysplasia and Osteopenia of the Ribs, Hand, Knees, and Pelvis (Skeletal System)
case_images: hepatmon-13-06-10124-g002.jpg
case_images: PMC3759778_01_hepatmon-13-06-10124-g002.jpg
case_images: fig3651
case_images: Bone survey reported small and irregular epiphysis compatible with multiple epiphyseal dysplasias (Figure 4).
case_images: Electrophoregrams Illustrates. A) Normal, B) Abnormal sequences; The arrow shows the site of mutation in the patient
case_images: hepatmon-13-06-10124-i003.jpg
case_images: PMC3759778_01_hepatmon-13-06-10124-i003.jpg
case_images: fig3652
case_images: Sequencing analysis showed that the patient is homozygous for a novel missense mutation, Q166R (c.604A > G; p.Glu166R), in exon 3 of the EIF2AK3 gene (Figure 5).