This 2005 narrative review by Stieber and Dormans synthesizes the genetics, pathophysiology, and regional skeletal manifestations of hereditary multiple exostoses (HME), an autosomal dominant disorder caused by EXT gene mutations. It addresses how characteristic deformities develop across the forearm, knee, ankle, and hip, and when surgical intervention is warranted.
When you see a child with progressively bowing forearms, short stature, and valgus ankle or knee deformity, think HME — apply the Masada classification to the forearm radiographs to guide surgical planning, and in any skeletally mature HME patient with a painful, enlarging lesion, measure cap thickness: a cap exceeding 2 cm demands oncologic evaluation for chondrosarcomatous transformation.
This 2005 narrative review by Stieber and Dormans synthesizes the genetics, pathophysiology, and regional skeletal manifestations of hereditary multiple exostoses (HME), an autosomal dominant disorder caused by EXT gene mutations. It addresses how characteristic deformities develop across the forearm, knee, ankle, and hip, and when surgical intervention is warranted.
When you see a child with progressively bowing forearms, short stature, and valgus ankle or knee deformity, think HME — apply the Masada classification to the forearm radiographs to guide surgical planning, and in any skeletally mature HME patient with a painful, enlarging lesion, measure cap thickness: a cap exceeding 2 cm demands oncologic evaluation for chondrosarcomatous transformation.