Chondrodysplasia punctata
Chondrodysplasia
punctata Conradi-Hünermann, pelvic X-ray, newborn; stippled calcifications around femoral metaphysis bilaterally
Infant with
trauma to upper extremity. AP radiograph of the upper extremity shows calcific stippling of cartilage and peri-articular soft tissues in the shoulder and elbow.The diagnosis was 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:
- rhizomelic chondrodysplasia punctata (RCDP)
- X-linked dominant chondrodysplasia punctata (CDPX2)
- non-rhizomelic chondrodysplasia punctata (NCRDP)
- brachytelephalangic chondrodysplasia punctata (CDPX1)
- Conradi-Hünermann syndrome
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
Siehe auch:
- Skelettdysplasie
- lethal skeletal dysplasias
- Fetales Warfarinsyndrom
- Chondrodyplasia punctata, rhizomeler Typ
- Conradi–Hünermann syndrome
- Chondrodysplasia punctata durch X-chromosomale Deletion
- Chondrodysplasia punctata Typ Sheffield
- Chondrodysplasia punctata, nicht-rhizomeler Typ
- Chondrodysplasia punctata, tibial-metakarpaler Typ
- Chondrodysplasia punctata Typ Toriello
und weiter:
Assoziationen und Differentialdiagnosen zu Chondrodysplasia punctata:
