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Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia
1Department of Pediatrics, University of Tennessee, Knoxville.
American Journal of Medical Genetics
|September 15, 1993
Abstract:
An 11-year-old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dysplasia. He was subsequently found to have epiphyseal dysplasia secondary to congenital hypothyroidism. The radiographic findings in longstanding congenital hypothyroidism and spondyloepiphyseal dysplasia are compared and a possible mechanism for the dysplasia of hypothyroidism is discussed.