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Case Reports
. 2008 Feb 15;146A(4):474-8.
doi: 10.1002/ajmg.a.32182.

Clinical and radiologic findings in an adult male with dysosteosclerosis

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Case Reports

Clinical and radiologic findings in an adult male with dysosteosclerosis

Edmond G Lemire et al. Am J Med Genet A. .

Abstract

Dysosteosclerosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis and platyspondyly. A case of dysosteosclerosis in a 17-year-old male from our institution was first published by Houston et al. 1978. This patient has survived into adulthood and to our knowledge, is the only reported adult with dysosteosclerosis. We will review the clinical and radiographic features in our patient.

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