Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa

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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

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