Encyclopedia > Kocher-Debre-Semelaigne syndrome

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Kocher-Debre-Semelaigne syndrome

A syndrome (myopathy) of hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema[?], short stature and cretinism. The absence of painful spasms and pseudomyotonia[?] differentiates this syndrome from Hoffmann syndrome[?].

The syndrome is named after Emil Theodor Kocher, Robert Debré and Georges Semélaigne.

Also known as Debre-Semelaigne syndrome or cretinism-muscular hypertrophy, hypothyroid myopathy, hypothyroidism-large muscle syndrome, hypothyreotic muscular hypertrophy in children, infantile myxoedema-muscular hypertrophy, myopathy-myxoedema syndrome, myxoedema-muscular hypertrophy syndrome, myxoedema-myotonic dystrophy syndrome.

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