PMC7673925_01
Patient's mother's X-ray hand demonstrating brachydactyly.
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Apart from short stature (140 cm), her mother also has brachydactyly, spinal stenosis, and mild mental retardation (Figure 1).
Patient's (left) and her mother's (right) hands demonstrating brachydactyly.
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Physical examination showed round facies, acral shortening of the long bones, and brachydactyly (Figure 2).
MRI brain showing hydrocephalus with obstruction at the craniocervical junction.
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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).
Skull X-ray showing copper beaten skull appearance.
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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).
PMC7673925_02