View source for Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa

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==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.<ref name="pmid2783003">{{cite journal |author=Khaldi F, Bennaceur B, Gharbi HA |title=[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration] |language=French |journal=Arch. Fr. Pediatr. |volume=46 |issue=6 |pages=429–32 |year=1989 |pmid=2783003 |doi= |url=}}</ref>

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====
* [[Sensorineural deafness]]

====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==
{{reflist|2}}



[[Category:Disease]]
[[Category:Genetics]]
[[Category:Grammar]]



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