COL2A1 and scoliosis: Despite negative mutational analysis of COL2A1 for SED, the diagnosis was revised to SED at 12 years by a radiologist with a great deal of experience with Morquio A based on clinical progression of mild scoliosis, radiographic interpretation of mild platyspondyly, and the absence of the classic features of Morquio A. It was not until whole exome sequencing was carried out that the patient was diagnosed with Morquio A at 27 years of age [18].