Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: Difference between revisions
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There is no associated metabolic abnormality | There is no associated metabolic abnormality | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa has a [[prevalence]] of <10/100000. | |||
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa has a prevalence of <10/100000. | |||
==Diagnosis== | ==Diagnosis== | ||
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* Restricted joint mobility | * Restricted joint mobility | ||
* Spine problems | * Spine problems | ||
* Vision problems - night blindness | * Vision problems - [[night blindness]] | ||
===Physical examination=== | ===Physical examination=== | ||
====Appearance of the patient==== | ====Appearance of the patient==== | ||
The patient is short statured with a curved back. | The patient is short statured with a curved back. | ||
====Ear==== | ====Ear==== | ||
* [[Sensorineural deafness]] | |||
* Sensorineural deafness | |||
====Eye==== | ====Eye==== | ||
* Vision problems - due to [[retinitis pigmentosa]] | * Vision problems - due to [[retinitis pigmentosa]] | ||
====Back==== | ====Back==== | ||
* Abnormal curvature of the spine | * Abnormal curvature of the spine | ||
====Neurologic==== | |||
* [[Mental retardation]] - decreased intellectual capacity | |||
===Imaging=== | ===Imaging=== | ||
====X-ray==== | ====X-ray==== | ||
Radiographs showed: | Radiographs showed: | ||
* Diffuse [[osteoporosis]] | * Diffuse [[osteoporosis]] | ||
* Severe retardation of bone-age | * Severe retardation of bone-age | ||
* Dysplasia of the femoral head | |||
* Dysplasia of the femoral head | |||
==References== | ==References== | ||
Latest revision as of 18:35, 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.[1]
There is no associated metabolic abnormality
Epidemiology and Demographics
Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa has a prevalence of <10/100000.
Diagnosis
Symptoms
- Sensorineural deafness
- Restricted joint mobility
- Spine problems
- Vision problems - night blindness
Physical examination
Appearance of the patient
The patient is short statured with a curved back.
Ear
Eye
- Vision problems - due to retinitis pigmentosa
Back
- Abnormal curvature of the spine
Neurologic
- Mental retardation - decreased intellectual capacity
Imaging
X-ray
Radiographs showed:
- Diffuse osteoporosis
- Severe retardation of bone-age
- Dysplasia of the femoral head
References