A case report of pseudoachondroplasia with severe lumbar vertebral deformity.

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We reported a case of pseudoachondroplasia with severe lumbar vertebral deformity. The patient was a 50-year-old-man who had complained of a low back pain for several years. He visited our hospital due to severe low back pain, intermittent claudication and vesicorectal disturbance. He was healthy until 6 years old when he was pointed out dwarfism (rhizomelic type) and deformity of his hand and foot. The abnormality of his face and head shape were absent. His Parents and brothers are all normal, which suggests that the inheritance of this disease is autosomal recessive type. The X-ray film of lumbar region showed severe deformity with bone spur and malalignment. The myelography showed complete block between L2 and L3 in the lumbar spine. From the above, the diagnosis of pseudoachondroplasia and spinal canal stenosis was made. We concluded that the spinal canal stenosis with severe deformity was followed by the malalignment of lumbar spine of this disease.
西日本整形・災害外科学会の論文