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Updated: Aug 9, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
[Familial osteochondrodysplatic dwarfism associated with deafness and tapeto-retinal heredo-degeneration]
F Khaldi1, B Bennaceur, H A Gharbi
1Service de Pédiatrie générale, Hôpital d'Enfants, Tunis.
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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