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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Figure 2

X-ray images of some affected members. A) AP film of the wrist in case IV-2 at the age of 10 years showing flattening of the radial epiphyses and underdeveloped ulnar epiphyses. B) AP film of the ankle in IV-2 at ten years of age, showing flattening of the tibial epiphyses. C) AP film of the knee in case IV-4 at six years of age showing flattening of the tibial and femoral epiphyses with some irregularities of the end plates of femoral epiphyses.

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