Figure 1
From: Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
(a) Family pedigree; arrow shows the proband (P). (b) Orthopantomography showing impacted teeth, enamel hypoplasia and malformed premolars and roots. (c) Lateral radiograph of the skull showing diffuse thickening of the calvarium. (d) Lateral radiograph of the spine showing a ‘sandwich’ vertebrae appearance (arrows). (e) Radiograph of the lower limb and pelvis showing diffuse thickening of bones, with a ‘bone-within-bone’ appearance (arrows). (f) Radiograph of hands showing the ‘bone-within-bone’ appearance in metacarpals (arrows) and phalanges.
