label: spondylometaphyseal dysplasia, Kozlowski type
label_lc: spondylometaphyseal dysplasia, kozlowski type
description: "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."