Fig. 1a–d | Journal of Human Genetics

Fig. 1a–d

From: Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era

Fig. 1a–d

Skeletal features change with age. a A pseudoachondroplasia patient aged 6. Short-limbed short stature resembling achondroplasia, but the patient is of normal facies. b Lateral radiograph of the spine aged 6 showing the “anterior tongue-like protrusion” appearance (red arrow). c The same patient aged 17. The short stature and deformity of extremities have become more conspicuous. d Lateral radiograph of the spine aged 17. The characteristic feature has disappeared

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