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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Fig. 2

Child II-1. a Lateral skull radiograph aged 2 years (a frontal view was not performed at this time). The anterior fontanel is patent. There are multiple Wormian bones around the lambda. b Child II-1. Radiograph of left tibia and fibula aged 2 years. There are transverse fractures of the tibia and fibula. The tibia is undermodelled. Bone density appears increased. c-d Child II-1. Radiographs of the right and left upper limbs aged 2 years. There is pronounced ulnar shortening particularly distally, with varus bowing of the forearm bones. e-g Child II-4. Lateral skull radiograph demonstrates multiple Wormian bones and radiographs of the forearms aged 11 months ulnar shortening

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