K. Glutig, G. Hahn (Institut für diagnostische Radiologie Abteilung Kinderradiologie Uniklinikum Dresden/Dresden/Deutschland)  

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0 Newborn  

Female  

Generalized diseases  

congenital  

Mature female infant, 3200 g., 49 cm, Sectio,
short extremities, especially Femur bilateral,
round Thorax, blue Sklera
 

generalised connective tissue disorder,
Collagen metabolic disorder of collagen type I: (Bone collagen)
Manifestation in the bony skeleton

insufficient production of spongiosa: multiple micro fractures,
Diminished bone neoformation,
sekundary reactive fibrosis and excessive callus formation  

<- view X-Ray 1

X-Ray 1: Thorax-Abdomen in lying position:

Narrow rip pairs without evidence of previous fractures.

Unremarkable Clavicles. Normal vertebral bodies without evidence of a significant flattening.





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X-Ray 2: Left arm in one plane:

Evidence of subtle metaphysary step formation of the distal Ulna and the distal Radius. Along the diaphyses and Humerus no evidence of a fracture.






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X-Ray 3: Right arm in one plane:

Evidence of subtle metaphysary step formation of the distal Ulna and the distal Radius. Along the diaphyses and Humerus no evidence of a fracture.





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X-Ray 4: Right leg ap:

Clear bowing of the right femur and extensive Callus formation.

Status post at least two intrauterin happened fractures with secondary shortening of the Femur. Delicate distalwards narrowing and bowed Fibula and Tibia.





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X-Ray 5: Right leg lateral:

Clear bowing of the right femur and extensive Callus formation.

Status post at least two intrauterin happened fractures with secondary shortening of the Femur. Delicate distalwards narrowing and bowed Fibula and Tibia.





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X-Ray 6: Left lower leg ap:

Clear bowed deformation of the femur with fresh fracture in the middle diaphysis with clear dislocation. Tibia and Fibula of the left leg also extensively deformed.





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X-Ray 7: Head ap:

Hypertransparent vault of the cranium especially parietal.





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X-Ray 8: Head lateral:

Hypertransparent vault of the cranium especially parietal.


 

Total constellation (Consens)  

N/A  

Therapy: Bisphosphonates
Symptomatic: Orthopedic-supportive devices
No physical strain


Prognosis variable from type.
Four types:
Type II a, b, c, d and Typ III: at birth manifest and prognostic unfavorable.
Type I und IV: better prognosis with decline of frequency of fractures after puberty.

Frequency dependent of type: 1,6 or 21,8 per 100000 children,
ca. 5500 afflicted people in Germany  

N/A  

N/A  

1. Medline:
Rauch F, Glorieux FH
Osteogenesis imperfecta
Lancet. 2004 Apr 24 ;363(9418) :1377-85  

Osteogenesis imperfecta, brittle bones, dysplasia, brittle bone disease, generalised connective tissue disorder, collagen metabolic disorder, collagen type I, child, childhood, pediatric radiology  

K Glutig, G Hahn. Osteogenesis imperfecta - brittle bone disease. PedRad [serial online] vol 5, no. 2.
URL: www.PedRad.info/?search=20050222105123