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Fig. 2 | BMC Medical Genetics

Fig. 2

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. 2

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

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BMC Medical Genetics

ISSN: 1471-2350

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