Title of article
Brachydactylia As A Phenotypic Feature of Mitochondrial Disorder
Author/Authors
Finsterer، Josef نويسنده Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria. Finsterer, Josef , Strobl، Walter نويسنده Orthopedic Hospital Speising, Vienna, Austria. Strobl, Walter
Issue Information
ماهنامه با شماره پیاپی 0 سال 2012
Pages
5
From page
831
To page
835
Abstract
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.
Journal title
Acta Medica Iranica
Serial Year
2012
Journal title
Acta Medica Iranica
Record number
2389671
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