Presentation
Abnormal facies.
Patient Data
Age: 1 month
Gender: Male
From the case:
Chondrodysplasia punctata
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/127081/annotated_viewer_json?iframe=true\u0026lang=us"}
Multiple punctate calcific stippling is seen in the ossification centers of the lumbosacral spine, bilateral triradiate cartilages, and bilateral proximal humerus and femur.
Case Discussion
Chondrodysplasia punctata includes a spectrum of uncommon congenital skeletal dysplasia which can be broadly classified into rhizomelic type and non-rhizomelic types.
They demonstrate characteristic stippling at the cartilaginous ossification centers of the axial and peripheral bones. Characterstic coronal clefts are seen in the spine on lateral views.
Prenatal ultrasonography and radiographs after birth can help make the diagnosis.