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Fig. 3 | BMC Medical Genetics

Fig. 3

From: 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

Fig. 3

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

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BMC Medical Genetics

ISSN: 1471-2350

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