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. Author manuscript; available in PMC: 2017 Feb 6.
Published in final edited form as: Mol Genet Metab. 2016 Nov 29;120(1-2):78–95. doi: 10.1016/j.ymgme.2016.11.007

Fig. 1.

Fig. 1

Clinical pictures of MPS IVA patients (adapted from Educational CD for Morquio and permitted by Carol Ann Foundation). Left panel; this is 31 year old female patient with a severe form of MPS IVA. She is 90 cm tall, showing skeletal deformities including pectus carinatum, bilateral genu valgum, diffuse corneal clouding, atlantoaxial subluxation, and hyperlaxity of joints. The genotype is c.1288_1289delCA/c.1288_1289delCA Middle panel; this is 18 year old male patient with an intermediate form of disease. He is 135 cm tall with the milder skeletal deformities of pectus carinatum, bilateral genu valgum, and hyperlaxity of joints and corneal clouding. The genotype is p.R94G/p.N204K. Right panel; this is 25 year old male patient with a mild form of disease. He is 157 cm tall and has milder skeletal deformities of thoracolumbar gibbus, mild platyspondyly and anterior wedging of the bodies in X-rays but no genu valgum. The genotype is pN204K/pN204K. All three patients have normal intelligence.