| A rare primary bone dysplasia disorder with characteristics of infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy. |
