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05:12
Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
King-Denborough Syndrome-Dysmorphic Features Suggesting Risk of Malignant Hyperthermia
Piotr Nowakowski1, Karolina Czeczko2, Anna Potulska-Chromik2
1Student Scientific Circle, Department of Neurology, Medical University of Warsaw, Banacha 1a, 02-097 Warsaw, Poland.
Journal of Mother and Child
|June 29, 2026
Summary
King-Denborough syndrome, a rare RYR1-related myopathy, presents with congenital hypotonia and dysmorphic features. Early diagnosis is crucial for managing malignant hyperthermia risks during anesthesia.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- King-Denborough syndrome is a rare RYR1-related myopathy.
- It presents as a congenital myopathy with characteristic dysmorphic features.
- Susceptibility to malignant hyperthermia is a key clinical concern.
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