Abstract
Short-limbed dwarfism, knock knees and joint hypermobility are the classical clinical criteria encountered in patients with pseudoachondroplasia. Progressive kyphoscoliosis was the main clinical presentation in our patients with pseudoachondroplasia. Preoperative spine radiographs in an 13-years-old-girl showed severe kyphoscoliotic deformity (kyphosis - 70o and scoliosis of Cobbs angle – 55o ). Keywords: Pseudoachondroplasia; COMP gene mutation.
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