Chondrodysplasia punctata

Chondrodysplasia punctata (CDP) 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.

Pathology

Subtypes

It can be broadly divided into rhizomelic and non-rhizomelic forms:

Genetics

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

Radiographic features

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

Treatment and prognosis

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

Differential diagnosis

Stippled epiphyses can also be seen in:

See also