We report on a 5 1/2 year-old Italian girl with a distinctive form of metaphyseal chondrodysplasia simulating cartilage hair hypoplasia. The pattern of metaphyseal changes and the associated bony abnormalities differentiate this patient from all the recognized forms of metaphyseal chondrodysplasia.
- Cartilage hair hypoplasia
- Cone-shaped epiphyses
- Metaphyseal dysplasia
- Metaphyseal dysplasia type Schmid
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