Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder

Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder

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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 hyperte...

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Bibliographic Details
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
Description
Summary: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
ISSN:0044-6025
1735-9694

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