[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration]

Abstract

Two cases of a new type of hereditary chondrodysplasia are reported. The main features were: severe dwarfism, progressive scoliosis and bilateral dislocation of the hip. A neurosensory type of deafness with retinitis pigmentosa was also present. Radiographs showed diffuse osteoporosis, severe retardation of bone-age and dysplasia of the femoral head. There was no associated metabolic abnormality. The disease seems to have a dominant autosomal pattern of inheritance with a variable degree of penetrance.