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.^[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

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

↑ Khaldi F, Bennaceur B, Gharbi HA (1989). “[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration]”. Arch. Fr. Pediatr. (in French). 46 (6): 429–32. PMID 2783003.

Template:WH Template:WS

[pmid2783003-1] Khaldi F, Bennaceur B, Gharbi HA (1989). “[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration]”. Arch. Fr. Pediatr. (in French). 46 (6): 429–32. PMID 2783003.

[1]