EURORAD ESR

Case 12388

Rhizomelic chondrodysplasia punctata

Author(s)
McSherry P1, Paterson A1, O'Sullivan S2

(1) Radiology Department
(2) Department of Metabolic Medicine
Royal Belfast Hospital for Sick Children
180 Falls Road,
Belfast BT12 6BE, UK
Email:annie.paterson@belfasttrust.hscni.net
 
Patient
female, 1 day(s)
 
 
  • Figure 1
    CXR

    Coronal cleft vertebrae and epiphyseal stippling involving the humeral heads is evident, with flaring of the adjacent metaphyses.

     
    Area of Interest: Bones; Imaging Technique: Conventional radiography; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 2
    Radiograph of right arm

    There is rhizomelic shortening of the limb with flaring of the humeral metaphyses and stippling of the epiphyses around the shoulder and elbow. The forearm bones and hand are spared.

     
    Area of Interest: Bones; Imaging Technique: Conventional radiography; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 3
    XR lumbar spine

    Prominent coronal cleft vertebrae are seen in the lower thoracic and lumbar region. The pedicles are broader than normal.

     
    Area of Interest: Bones; Imaging Technique: Conventional radiography; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 4
    Radiograph of lower limb

    Epiphyseal stippling involves the femur and the proximal tibia. Stippling is also apparent at the insertion of the patellar tendon and surrounding the patella itself.

     
    Area of Interest: Bones; Imaging Technique: Conventional radiography; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 5
    Radiograph of the pelvis

    Stippling is apparent around the anterior pelvis and the sacro-iliac joints. The proximal femoral epiphyses are also stippled.

     
    Area of Interest: Bones; Imaging Technique: Conventional radiography; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 6
    Lateral skull radiograph

    There is maxillary hypoplasia. The cervical vertebrae show platyspondyly. Foci of calcification are seen in the soft tissues of the neck inferior to the hyoid bone.

     
    Area of Interest: Bones; Imaging Technique: Conventional radiography; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
Coronal cleft vertebrae and epiphyseal stippling involving the humeral heads is evident, with flaring of the adjacent metaphyses.
 
There is rhizomelic shortening of the limb with flaring of the humeral metaphyses and stippling of the epiphyses around the shoulder and elbow. The forearm bones and hand are spared.
 
Prominent coronal cleft vertebrae are seen in the lower thoracic and lumbar region. The pedicles are broader than normal.
 
Epiphyseal stippling involves the femur and the proximal tibia. Stippling is also apparent at the insertion of the patellar tendon and surrounding the patella itself.
 
Stippling is apparent around the anterior pelvis and the sacro-iliac joints. The proximal femoral epiphyses are also stippled.
 
There is maxillary hypoplasia. The cervical vertebrae show platyspondyly. Foci of calcification are seen in the soft tissues of the neck inferior to the hyoid bone.
 
 
 
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