Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
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.
...
PMID:A rare complication of untreated congenital hypothyroidism in a Sudanese child. 3079 3