Brachydactylia Associated with Mitochondrial Disorder in an Octogenarian

摘要

In a 80yo female with acute pancreatitis, myopathy, polyneuropathy, short stature, diabetes mellitus, hypothyroidism, hypoacusis, atrial fibrillation, hepatopathy, and renal cysts, mitochondrial disease was diagnosed. The family history for the disease was negative. Interestingly, the patient additionally presented with brachydactylia, which was also found in her son and father and has not been reported in association with mitochondrial disease before. Whether the relation between brachydactylia and mitochondrial disease was causal or coincidental remains speculative.