EURORAD ESR

Case 14505

Osteogenesis imperfecta type II

Author(s)
Arvy Buttiens1, Filip M. Vanhoenacker1, 2, 3, Astrid Van Hoyweghen1, Yves Leroij4
1. Department of radiology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium
2. Department of radiology, General Hospital Sint-Maarten, Duffel-Mechelen, Belgium
3. Department of radiology, Gent University Hospital, Belgium
4. Department of gynaecology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium

Department of Radiology, University Hospital Antwerp; Wilrijkstraat 10, 2650 Antwerp, Belgium
 
Patient
female, 1 day(s)
 
 
  • Figure 1
    Prenatal ultrasound at 27 weeks of gestation.
     

    Transverse image of the skull. Note soft, depressible skull, with flattening of the parietal bone on pressure with the ultrasound transducer (arrow).

     
    Area of Interest: Bones; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Axial image of the chest. The fetal cardio thoracic circumference ratio is 0.55 (normal value < 0.5), indicating relative narrowing of the chest. Note deformed ribs (arrows) due to fractures.

     
    Area of Interest: Biliary Tract / Gallbladder; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    3D-ultrasound image of the chest depicting irregular delineation of multiple ribs in keeping with rib fractures (arrows).

     
    Area of Interest: Bones; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Longitudinal image of the femur showing shortening of the diaphysis compared to gestational age, broadening and bowing.

     
    Area of Interest: Bones; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Marked shortening of the ulna and radius compared to gestational age.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Ultrasound; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 2
    Post-mortem radiograph of the skull
     

    Fig. 1a Post-mortem anteroposterior radiograph of the skull shows decreased ossification of the calvaria.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Demineralisation-Bone;

    Fig. 1b Post-mortem lateral radiograph of the skull showing decreased ossification, flattening of the occipital bone (arrows) and disproportionally small maxillofacial structures.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Demineralisation-Bone;
     
     
  • Figure 3
    Post-mortem radiograph of the chest and abdomen
     

    Fig. 2a Post-mortem anteroposterior radiograph of the trunk showing marked demineralization of the skeleton and abnormal bowing of the humeri, radii and ulnae (arrows).

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Fig. 2 b Enlarged view of the chest revealing beaded appearance of the multiple ribs (as demonstrated with arrowheads on the course of rib 8 R/L). Note also presence of an umbilical vein catheter.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Fig. 2c Post-mortem lateral radiograph showing flattening of the vertebral bodies (as demonstrated on a lumbar vertebra (thick arrow); Note also bowing fractures of the long bones (small arrows). Presence of an...

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 4
    Post-mortem radiograph of the right upper and lower limb

    Fig. 3 Post-mortem radiograph of the right limbs showing shortening, bowing and callus formation of the long bones due to fractures (arrows). This results in a typical accordion-like appearance of the tubular bones.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 5
    Table showing different types of OI with characteristic (imaging) features.

    Table showing the different types of OI according to the Sillence and Glorieux classification and most characteristic (imaging) features.

     
    Area of Interest: Bones; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
  • Figure 6
    Typical examples of different types of OI on radiographs
     

    Type I OI. Note osteoporosis, mild overmodeling of the long bones and fractures sequelae of a different date at the left distal femoral diaphysis (arrow) and medial proximal tibia diaphysis (arrowhead).

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Type III OI in a 1 year-old male. Note osteoporosis, marked deformities of the femora with bilateral fracture sequelae of the femoral diaphyses. There is hypertrophic callus at the right femoral diaphysis (arrow).

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Type III OI. Note popcorn calcifications of the proximal humeri (arrows) and severe kyphoscoliosis.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Type IV OI in an adult patient . Note spontaneous fracture at the left femoral diaphysis and dense metaphyseal bands in the distal femur (arrow) and proximal tibia due to bisphosphonate treatment.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;

    Type V OI. There is an incompletely healed fracture at the middiaphysis of the right femur with hyperplastic callus formation (arrow). Note dense metaphyseal lines within the distal femur and proximal tibia.

     
    Area of Interest: Musculoskeletal bone; Imaging Technique: Plain radiographic studies; Procedure: Diagnostic procedure; Special Focus: Dysplasias;
     
     
Transverse image of the skull. Note soft, depressible skull, with flattening of the parietal bone on pressure with the ultrasound transducer (arrow).
 
Axial image of the chest. The fetal cardio thoracic circumference ratio is 0.55 (normal value < 0.5), indicating relative narrowing of the chest. Note deformed ribs (arrows) due to fractures.
 
3D-ultrasound image of the chest depicting irregular delineation of multiple ribs in keeping with rib fractures (arrows).
 
Longitudinal image of the femur showing shortening of the diaphysis compared to gestational age, broadening and bowing.
 
Marked shortening of the ulna and radius compared to gestational age.
 
Fig. 1a Post-mortem anteroposterior radiograph of the skull shows decreased ossification of the calvaria.
 
Fig. 1b Post-mortem lateral radiograph of the skull showing decreased ossification, flattening of the occipital bone (arrows) and disproportionally small maxillofacial structures.
 
Fig. 2a Post-mortem anteroposterior radiograph of the trunk showing marked demineralization of the skeleton and abnormal bowing of the humeri, radii and ulnae (arrows).
 
Fig. 2 b Enlarged view of the chest revealing beaded appearance of the multiple ribs (as demonstrated with arrowheads on the course of rib 8 R/L). Note also presence of an umbilical vein catheter.
 
Fig. 2c Post-mortem lateral radiograph showing flattening of the vertebral bodies (as demonstrated on a lumbar vertebra (thick arrow); Note also bowing fractures of the long bones (small arrows). Presence of an umbilical vein catheter.
 
Fig. 3 Post-mortem radiograph of the right limbs showing shortening, bowing and callus formation of the long bones due to fractures (arrows). This results in a typical accordion-like appearance of the tubular bones.
 
Table showing the different types of OI according to the Sillence and Glorieux classification and most characteristic (imaging) features.
 
Type I OI. Note osteoporosis, mild overmodeling of the long bones and fractures sequelae of a different date at the left distal femoral diaphysis (arrow) and medial proximal tibia diaphysis (arrowhead).
 
Type III OI in a 1 year-old male. Note osteoporosis, marked deformities of the femora with bilateral fracture sequelae of the femoral diaphyses. There is hypertrophic callus at the right femoral diaphysis (arrow).
 
Type III OI. Note popcorn calcifications of the proximal humeri (arrows) and severe kyphoscoliosis.
 
Type IV OI in an adult patient . Note spontaneous fracture at the left femoral diaphysis and dense metaphyseal bands in the distal femur (arrow) and proximal tibia due to bisphosphonate treatment.
 
Type V OI. There is an incompletely healed fracture at the middiaphysis of the right femur with hyperplastic callus formation (arrow). Note dense metaphyseal lines within the distal femur and proximal tibia.
 
 
 
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