PMC9468246_01
Imaging examination, X-ray shows the right femoral skull epiphysis becomes flat, smaller, irregular in shape, multiple cystic low-density lesions are seen inside, the right acetabulum is flat, and the right hip joint space is widened. The right femoral head shifted outwards and upwards (A). CT shows the right femoral head epiphysis was flattened, several microcystic changes were observed on the upper edge, the right femoral head slightly shifted outwards and upward, and the right acetabulum was slightly flattened (B). MRI showed that the right side Femoral skull epiphysis became flat and local bone collapsed. There were multiple small patchy T2WI hyperintensity shadows under the right femoral metaphysis and right acetabular articular surface (C).
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F1
The right femoral head shifted outwards and upwards (Figure 1A). CT results: the right femoral head epiphysis was flattened, several microcystic changes were observed on the upper edge, the right femoral head slightly shifted outwards and upward, and the right acetabulum was slightly flattened (Figure 1B). MRI results show right side femoral epiphysis became flat and local bone collapsed: there were multiple small patchy T2WI hyperintensity shadows under the right femoral metaphysis and right acetabular articular surface (Figure 1C).
Full-exon detection and Sanger sequencing verification were performed on the children and their parents C. 553T>A homozygous missense mutation (NM_ 001289790, F 185 I) was found in exon 6 of the GPI gene, which was inherited from the parents.
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F2
Full-exon detection and Sanger sequencing verification were performed on the children and their parents C. 553T>A homozygous missense mutation (NM_ 001289790, F 185 I) was found in exon 6 of the GPI gene, which was inherited from parents (Figure 2).