Kocher-Debré-Semelaigne Syndrome in Presumed Identical Twins
Abstract
Summary: Two male twins, presumed to be identical, and having the unusual combination of cretinism and generalised muscular hypertrophy (Kocher-Debré-Semelaigne syndrome) are described. Diagnosis of cretinism was based on clinical, radiological and laboratory criteria. Primary muscle disease was excluded by histopathological features of muscle biopsy. Response to thyroid therapy was satisfactory. Evidence suggests autosomal recessive mode of inheritance in this family. Pathogenesis of this syndrome remains uncertain.
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