Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance. | The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance. | ||
There is no associated metabolic abnormality | There is no associated metabolic abnormality |
Revision as of 16:42, 27 July 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa is an autosomal dominant disease characterized by dwarfism and musculoskeletal problems along with deafness and eye problems.
Pathophysiology
The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance.
There is no associated metabolic abnormality
References