Finsterer Josef, Strobl Walte
Krankenanstalt Rudolfstiftung, Vienna, Austria.
Acta Med Iran. 2012;50(12):831-5.
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.
线粒体疾病（MIDs）偶尔可能伴有畸形，但手部畸形，如下例所示，仅有极少报道。一名72岁女性，有上睑下垂、听力减退、震颤、肌病、糖尿病、动脉高血压、严重心脏病、肺动脉高压、胃类癌、肝病、全身性动脉粥样硬化、贫血、多关节病和高脂血症，此外还出现短指畸形。经神经学检查怀疑为MIDs。家族史中糖尿病呈阳性，但短指畸形或MIDs的其他特征呈阴性。MIDs可能与短指畸形有关。骨骼畸形可能是MIDs的一种表型表现。
