Spondylometaphyseal dysplasia, Kozlowski type

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Spondylometaphyseal dysplasia, Kozlowski type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Spondylometaphyseal dysplasia, Kozlowski type?

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