We report on three Tunisian siblings with a rare assortment of clinical and radiographic abnormalities closely resembling Desbuquois dysplasia. However, the siblings have had normal facies, normal hands, and were mentally normal. There were severe musculo-skeletal distinguishing features such as joint stiffness, severe kyphoscoliosis, and multiple large joint dislocations. Moreover, the patients had an additional remarkable radiographic feature not reported in Desbequois dysplasia-multiple carpal ossification centers. The diagnosis of Desbuquois dysplasia is more difficult in older children and adults as the characteristic facial features of early childhood may recede, and the metaphyseal growth plates obliterate. This condition of these patients represents a novel Desbuquois-like syndrome.
We report a boy with a unique, "new" form of spondyloepimetaphyseal dysplasia. The conspicuous features of the spinal changes were the delay in ossification of the cervical spine and posterior elements of the thoraco-lumbar spine. The vertebral bodies were of abnormal shape but of normal size and well ossified. The hallmark of epiphyseal changes was markedly delayed ossification (bone age). The severely disturbed metaphyseal ossification was similar to Jansen metaphyseal dysplasia. This pattern of changes has not yet been described in spondyloepimetaphyseal dysplasia.
Bone localization of tuberculosis mainly affects the thoracolumbar spine. The cervical spine is rare. Its diagnosis is often late which exposes to great instability and potentially serious complications. We report the case of a 12-year old girl with no medical history, showing torticollis and high temperature without neurological complication. In the physical examination, he had torticollis and pain in the third, fourth and fifth cervical vertebra. When the biopsy was performed, we find an inter apophysis (between C7 and D1) collection. The histological examination confirmed the diagnosis of apophysis tuberculosis. The management based on tuberculosis chemotherapy and immobilization started as soon as possible.
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