Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.

Also known as: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome itself.