Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report

Figure 1 Diagnostic process. A-C: Pelvis X-ray (A), magnetic resonance imaging (B), and computed tomography (C) showed thickening of the cortex and narrowing of the medullary cavity in the pelvis and bilateral femurs. The neck of the right femoral head was irregular in shape and showed some free small bone shadow, suggesting the possibility of right femoral head and neck fracture (orange arrows); D and G: X-rays of the chest and right femur showed extensive bone density in the thoracic vertebrae, lumbar vertebrae, bilateral ribs, and bilateral humerus. There were no obvious abnormalities in the lungs, heart, or septum; E and F: Sanger sequencing to verify the heterozygous mutation of the CLCN7 gene (c.746C>T)