"The underlying genetic cause of MDST is biallelic pathogenic mutations in matrix metalloproteinases MMP13 2-4, a protein involved in the breakdown of collagen and other proteins in the extracellular matrix, which is particularly important in the development and remodelling of cartilage in the growth plates of children 5."
Expected headings
"Differential diagnoses"
"The dysplastic changes mentioned can have varying clinical effects, although they typically result in reduced height, disproportionately short stature with a higher upper-to-lower body ratio, bow-leggedness, genu varum, knee soreness, and gait disturbances 3."
"metaphyseal cupping, fraying, splaying and flaring"
"History and etymology"