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Fig. 2 | BMC Medical Genomics

Fig. 2

From: A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family

Fig. 2

Imaging findings of the proband (IV-1). (a-d) X-ray manifestation. The generalized increase in the bone density of the rib, spine, humerus, tibia, fibula. (a) Malunion of fracture of proximal phalanx in left middle finger. (b) Fracture of right upper arm with internal fixation (white arrows). (c) Spinal scoliosis and “sandwich” appearance of vertebrae (black arrow). (d) Erlenmeyer flask deformity of tibia and fibula. (e-l) Computed Tomography manifestation. (e-f) Skull thickening. (g) Poor sinus gasification (arrows). (h) Bone sclerosis of the maxilla (black arrows) and mastoid (white arrows). (i-j) The hammer-anvil joint fixation and tympanosclerosis (black arrows). (k-l) Irregular tooth alignment and agomphosis (white arrows)

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BMC Medical Genomics

ISSN: 1755-8794

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