Chondrodysplasia punctata

Last revised by Henry Knipe on 4 Oct 2022

Chondrodysplasia punctata is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.

Chondrodysplasia punctate can be broadly divided into rhizomelic and non-rhizomelic forms:

Chondrodysplasia punctate can have various inheritance patterns depending on different types ranging from autosomal dominant to autosomal recessive to X-linked dominant to X-linked recessive.

While they carry the common hallmark of epiphyseal calcific deposits 9 the exact set of radiographic features will vary between different subtypes.

While prognosis is variable, the rhizomelic forms can be lethal 3.

Stippled epiphyses can also be seen in:

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Cases and figures

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