spondylometaphyseal dysplasia, Kozlowski type (Q11695513)
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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
- Dysmorphism arthrogryposis skeletal maturation advanced
- Skeletal dysplasia Jequier-Kozlowski type
- SMDK
- SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK
- SMD Kozlowski type
- SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
- Jequier-Kozlowski syndrome
- Smd, Kozlowski Type
- Jequier Kozlowski skeletal dysplasia
- spondylometaphyseal dysplasia Kozlowski type
- Kozlowski spondylometaphyseal dysplasia
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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 |
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