Tehran University of Medical Sciences Acta Medica Iranica 0044-6025 50 12 2012 12 15 831 835 EN Josef Finsterer Krankenanstalt Rudolfstiftung, Vienna, Austria. Walter Strobl Orthopedic Hospital Speising, Vienna, Austria. 2015 09 28 Mitochondrial disorders (MIDs) may occasionaly go along with dysmorphism but hand deformities, as in the following case, have been only rarely reported. A 72 year old female with ptosis, hypoacusis, tremor, myopathy, diabetes mellitus, arterial hypertension, severe cardiac disease, pulmonary hypertension, gastric carcinoid, hepatopathy, generalised atherosclerosis, anemia, polyarthrosis, and hyperlipidemia, additionally presented with brachydactylia. Upon neurological work-up a MID was suspected. The family history was positive for diabetes but negative for brachydactylia or other features of a MID. MIDs may be associated with brachydactylia. Skeletal deformities may be a phenotypic manifestation of MIDs. https://acta.tums.ac.ir/index.php/acta/article/view/4003 https://acta.tums.ac.ir/index.php/acta/article/download/4003/3978