platyspondyly

Platyspondyly

• Platyspondyly - Ganzer Fall bei Radiopaedia

Short

stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report. a Photograph of the proband (IV: 3) showing flattened facial profile, micrognathia, short neck, and short trunk. b Whole spine lateral radiograph showing oval-shaped vertebral bodies. c Pelvis, femur, and tibial AP radiograph showing retarded ossification of the femoral heads while other ossification centers are age-appropriate. d Chest radiograph showing age-appropriate ossification centers at humeral heads and greater tuberosities of humeri. e, f Hand and foot AP radiographs are normal

Short

stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report. a Photograph of proband’s father (III: 1) showing disproportionate short stature and barrel-shaped chest. b, c Hand and feet radiographs are normal without brachydactyly. d Lateral radiograph of the thoracolumbar spine shows platyspondyly with kyphotic deformity. e Pelvis AP radiograph showing severe hip dysplasia and dislocation. f Thoracolumbar spine and pelvis AP radiographs of the proband’s grandfather also show platyspondyly and severe hip dysplasia and dislocation