Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder

• Main Authors: Walter Strobl, Josef Finsterer
• Format: Article
• Language: English
• Published: Tehran University of Medical Sciences 2012-12-01
• Series: Acta Medica Iranica
• Subjects: Dysmorphism; Hand Deformity; Mitochondrial Disorder; Myocardial Infarction; Myopathy; Multisystem Disease; Respiratory Chain
• Online Access: http://acta.tums.ac.ir/index.php/acta/article/view/4601/4280

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