A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

Figure 3

Radiological manifestations in patient 1. Skull X-ray (AP and lateral views) showing diffusely thickened dense calvarial bones of skull base and prognathism (a); X-ray chest (AP view) showing right clavicle and humerus and X-ray pelvis and upper part of both femora (AP view) with diffuse sclerotic texture and widened clavicles and ribs (b); X-ray of both hands (AP view) showing sclerotic appearance with medullary expansion of metacarpals and phalanges and hypoplastic terminal phalanges (c); X-ray of both feet (AP view) showing sclerotic appearance with medullary expansion of metatarsals and phalanges and hypoplastic terminal phalanges, bilateral hallux valgus, and overcrowded tarsal bones (d).

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