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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Overcoming the barriers to diagnosis of Morquio A syndrome

Figure 2

When the mutation study for a six-year-old girl with genu valgum and short stature revealed no COMP gene mutation indicating pseudoachondroplasia, the patient was referred to an orthopedic clinic with resulting skeletal survey suggestive of dysosotosis multiplex and Morquio A subsequently confirmed through enzyme analysis (a-d). a) The frog leg position of pelvis shows flared iliac wings with deficient ossification of the supra-acetabular portion and tapering ilium distally; ischium and pubic bones are thickened for her age; femoral capital epiphyses show slight flattening but not significant dysplasia. b) Lower extremity radiograph reveals coxa valga and genu valga; mild metaphyseal flaring is present in the distal femora but the distal femoral epiphyses are normal; the proximal tibial epiphyses show mild flattening. c) Lateral spine of the thoracolumbar vertebrae shows remarkable platyspondyly with middle beaking. d) Metacarpals are short with proximal conical shape that centrally converges; phalanges are short but the diaphyseal constriction is preserved; carpal bones are small and irregular; distal ulnar is short and growth plate is inclined toward the radius; radial metaphysis is wide and irregular.

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