[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration].
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.
Service de Pédiatrie générale, Hôpital d'Enfants, Tunis.
F
F
Khaldi
B
B
Bennaceur
H A
HA
Gharbi
D003638:Deafness / Q000150:complications*; D004392:Dwarfism / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*
Nanisme ostéochondrodysplasique familial associé à une surdité et une hérédo-dégénérescence tapéto-rétinienne.