Chondrodysplasia Punctata

Etiology: Heterogenous group of skeletal dysplasias with rhizomelic forms and non-rhizomelic forms (Conradi-Hünermann syndrome)
Imaging:
— Asymmetric punctate calcific deposits in epiphyses and around periarticular soft tissues of vertebral column, epiphyses, carpal bones, pelvis and other cartilaginous areas (trachea) which resolve by early childhood
— Shortening of long tubular bones in unilateral or bilateral distribution
— Coxa vara
— Atlantoaxial instability
— Congenital kyphosis and scoliosis
DDX: Stippled epiphyses – spondyloepiphyseal dysplasia
Complications:
Treatment:
Clinical:
— Short limbed – Asymmetric
— Prominent forehead, wideset eyes, depressed nasal bridge

Radiology Cases of Chondrodysplasia Punctata

Radiographs of chondrodysplasia punctata — CXR AP (left), lateral radiograph of the spine (center) and AP radiograph of the right lower extremity (right) obtained post mortem show asymmetric punctate calcific deposits in the epiphyses (stippled epiphyses) and around the periarticular soft tissues of the vertebral column, tarsal bones and pelvis. Platyspondyly is also seen throughout the spine. There is shortening of the proximal long bones.

Radiograph of chondrodysplasia punctata — AP radiograph of the upper extremity shows calcific stippling of cartilage and peri-articular soft tissues in the shoulder and elbow.