医
China Med Service
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前额及颧骨突出、耳聋、乏力、摇摆步态、婴儿出牙延迟、消瘦、肌肉萎缩
Progressive diaphyseal dysplasia (Camurati-Engelmann disease) is inherited sclerosing bone dysplasia; diaphyseal cortical thickening; limb pain; limp.
Long bone pain; limp; muscle weakness; waddling gait; delayed puberty
TGFB1 mutation; autosomal dominant.
Supportive; bisphosphonates; steroids for pain
Orthopedic / genetics.
Warm reminder: Health education reference only; seek care at regular hospital.
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