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  • Title: [Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration].
    Author: Khaldi F, Bennaceur B, Gharbi HA.
    Journal: Arch Fr Pediatr; 1989; 46(6):429-32. PubMed ID: 2783003.
    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.
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