Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026850 (muscular dystrophy)
5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features and management of a 7-year-old boy who presented with Kocher-Debre-Semelaigne syndrome (KDSS) are described. KDSS is a rare complication of the long-standing, untreated congenital hypothyroidism. It can be encountered in clinical practice in countries where neonatal screening program of hypothyroidism is not yet applied. The condition could clinically mimic muscular dystrophy, and should be recognized, as it is a reversible condition upon simple and straightforward treatment by thyroxin.
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PMID:A rare complication of untreated congenital hypothyroidism in a Sudanese child. 3079 3