case_images: PMC7673925_01
case_images: Patient's mother's X-ray hand demonstrating brachydactyly.
case_images: CRIE2020-8840082.001.jpg
case_images: PMC7673925_01_CRIE2020-8840082.001.jpg
case_images: fig1
case_images: Apart from short stature (140 cm), her mother also has brachydactyly, spinal stenosis, and mild mental retardation (Figure 1).
case_images: Patient's (left) and her mother's (right) hands demonstrating brachydactyly.
case_images: CRIE2020-8840082.002.jpg
case_images: PMC7673925_01_CRIE2020-8840082.002.jpg
case_images: fig2
case_images: Physical examination showed round facies, acral shortening of the long bones, and brachydactyly (Figure 2).
case_images: MRI brain showing hydrocephalus with obstruction at the craniocervical junction.
case_images: CRIE2020-8840082.003.jpg
case_images: PMC7673925_01_CRIE2020-8840082.003.jpg
case_images: fig3
case_images: The posterior cranial fossa was small with severe crowding of the foramen magnum and inferior herniation of the cerebellar vermis causing cervicomedullary kinking (Figure 3).
case_images: Skull X-ray showing copper beaten skull appearance.
case_images: CRIE2020-8840082.004.jpg
case_images: PMC7673925_01_CRIE2020-8840082.004.jpg
case_images: fig4
case_images: On reviewing the skull X-ray taken 6 months prior to this hospital admission, generalized prominent gyri with copper beaten skull appearance was noted (Figure 4).
case_images: PMC7673925_02