Kocher–Debre–Semelaigne syndrome

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Kocher–Debre–Semelaigne syndrome
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Synonyms Muscular pseudohypertrophy-hypothyroidism syndrome
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The Kocher–Debré–Semelaigne syndrome is hypothyroidism in infancy or childhood characterised by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism.<ref>,

 Neurological syndromes : a clinical guide to symptoms and diagnosis, 
  
 New York, NY:Springer New York, 
  
  
  
 ISBN 9781461477860,</ref> The absence of painful spasms and pseudomyotonia differentiates this syndrome from its adult form, which is Hoffmann syndrome.<ref>, 
  
 Clinical Rounds in Endocrinology: Volume II - Pediatric Endocrinology, 
  
 Springer, 
  
  
  
 ISBN 9788132228158,</ref>

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

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.

Kocher-Debre-Semelaigne syndrome gives infant a Hercules appearance.<ref>,

 Clinical Cases & Pearls in Medicine, 
  
 JP Medical Ltd., 
  
  
  
 ISBN 9789351526469,</ref>

References

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