Spondylometaphyseal dysplasia, Kozlowski type (Q52406)
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Spondylometaphyseal dysplasia (SED), Kozlowski type is a form of SED characterised by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalised platyspondyly.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_360868302 |
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| English | Spondylometaphyseal dysplasia, Kozlowski type |
Spondylometaphyseal dysplasia (SED), Kozlowski type is a form of SED characterised by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalised platyspondyly. |
