PMC9040309_01
(a) The base of the skull and facial bones are sclerotic. (b) Diffuse sclerosis is present within all bones. There is metaphyseal widening and undermodeling. Metaphyseal lucent bands are seen at the ends of long bones. (c) Anterior-posterior radiographs of lower limbs demonstrate "bone-within-bone" appearance in the long bones, tarsal bones, and short tubular bones of feet.
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F1
The X-ray of the bones revealed diffuse sclerosis within all bones (Fig. 1).
A novel homozygous missense variant (c.1504C>T; p.Arg502Trp) was detected in the chloride voltage-gated channel 7 gene. Segregation analysis demonstrated that her parents and sister were heterozygous for the same variant, but her brother had wild-type sequence.
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F2
A novel homozygous missense variant (c.1504C>T; p.Arg502Trp) was detected in the CLCN7 gene (Fig. 2). It was shown that her parents and sister were heterozygous for the same variant, but her brother had wild-type sequence (Fig. 2).
PMC9040309_02