Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa
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
Diagnosis
Symptoms
- Sensorineural deafness
- Restricted joint mobility
- Spine problems
- Vision problems
Physical examination
- Dwarfism
References