Abstract
King-Denborough syndrome (KDS) is a rare dysmorphic syndrome with an associated myopathy. In addition to mild proximal weakness, the syndrome features susceptibility to malignant hyperthermia, distinctive features (ptosis, low set ears, high arched palate and webbing of the neck) short stature, cryptorchism in males and skeletal abnormalities such as kyphoscoliosis and exaggerated lumbar lordosis. The diagnosis is often based on clinical criteria, as specific investigations including EMG and muscle biopsy may be normal or show only mild changes.
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