Osteogenesis imperfecta

Toddler with
abnormally shaped extremities. AP radiograph of the lower extremities shows diffuse osteopenia of the bones which are also gracile and which have chronic healing fractures present.The diagnosis was osteogenesis imperfecta Type I mild.
pediatricimaging.org • CC-by-nc-sa 4.0
X-ray of a
24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and poor bone density.
Wikipedia • Public domain
Fetal
osteogenesis imperfecta. Axial fetal head ultrasound view showing a decreased ossification of the skull (white arrow) with increased visualization of intra cranial structures.
www.eurorad.org • CC by-nc-sa-4.0
editX-rays of
a full term neonate boy who was found to have crackles from the chest. Later genetic testing revealed osteogenesis imperfecta type 5. Vertebrae and ribs... ...with multiple rib fractures Right leg, with somewhat deformed long bones (mainly the femur) with widened metaphyses There is also a cortical fracture on the fibula Left leg. Left arm... ...with a periosteal reaction indicating a fracture. Right arm
Wikipedia • CC0
editX-rays of
a full term neonate boy who was found to have crackles from the chest. Later genetic testing revealed osteogenesis imperfecta type 5. Vertebrae and ribs... ...with multiple rib fractures Right leg, with somewhat deformed long bones (mainly the femur) with widened metaphyses There is also a cortical fracture on the fibula Left leg. Left arm... ...with a periosteal reaction indicating a fracture. Right arm
Wikipedia • CC0
editX-rays of
a full term neonate boy who was found to have crackles from the chest. Later genetic testing revealed osteogenesis imperfecta type 5. Vertebrae and ribs... ...with multiple rib fractures Right leg, with somewhat deformed long bones (mainly the femur) with widened metaphyses There is also a cortical fracture on the fibula Left leg. Left arm... ...with a periosteal reaction indicating a fracture. Right arm
Wikipedia • CC0
Newborn with
abnormally shaped extremities. Lateral radiograph of the skull (upper left) shows multiple wormian bones in the coronal and lambdoid sutures. CXR AP (upper right) shows multiple bilateral healing rib fractures. AP radiographs of the upper (lower left) and lower (lower right) extremities show multiple bilateral healing fractures of the extremities causing bowing deformities of all of the extremities.The diagnosis was osteogenesis imperfecta Type III progressive deforming.
pediatricimaging.org • CC-by-nc-sa 4.0
Fetus being
radiographed post mortem. CXR AP (above) shows multiple bilateral chronic healing rib fractures resulting in a very small thorax and multiple healing fractures of the bilateral humeri, radii and ulnae resulting in them all having a bowed appearance. AP radiograph of the lower extremities (below) shows multiple healing fractures of the bilateral femora, tibiae and fibulae resulting in them all having a bowed appearance.The diagnosis was osteogenesis imperfecta Type II perinatal lethal.
pediatricimaging.org • CC-by-nc-sa 4.0
X-ray of a
24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and poor bone density.
Wikipedia • Public domain
Newborn with
abnormally shaped extremities. AP and lateral radiographs of the skull (above) show multiple wormian bones in the coronal and lambdoid sutures. CXR AP (lower left) shows multiple bilateral acute rib fractures. AP radiograph of the lower extremities (lower right) shows multiple bilateral acute and chronic fractures of the bilateral femora and tibiae and fibulae causing bowing deformities of the lower extremities.The diagnosis was osteogenesis imperfecta Type III progressive deforming.
pediatricimaging.org • CC-by-nc-sa 4.0
X-ray of a
24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A. Due to childhood neglect, subject never received rodding surgeries, and there is also evidence the femur was broken and not set properly in a hospital, causing a malunion. Severe scoliosis is also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and poor bone density.
Wikipedia • Public domain
X-ray of a
24-year-old American man, who had suffered more than one hundred bone fractures in his lifetime, and received a childhood clinical diagnosis of type IVB OI. Genetic diagnosis in 2018 identified a previously uncatalogued pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, substitution c.974G>A. Due to childhood neglect and poverty, subject never received surgery to implant intramedullary rods. Malunions are evident as the humerus and femur were broken in adolescence but orthopedic care did not follow. Severe scoliosis, as well as kyphosis, are also evident. The unavoidably low contrast in the film is due to a combination of subject"s obesity and low bone mineral density (BMD). Subject"s BMD Z-score was -4.1 according to results of a dual-energy X-ray absorptiometry (DXA) scan also done in 2018. This X-ray is of the left forearm and also shows most of the left upper arm and part of the left hand.
Wikipedia • Public domain
Osteogenesis
Imperfecta (OI) Type V in 11 months kid.
Wikipedia • CC BY-SA 2.5
Osteogenesis
Imperfecta Type V in Adult
Wikipedia • CC BY-SA 2.5
Popcorn
calcification (disambiguation) • Osteogenesis imperfecta - Ganzer Fall bei Radiopaedia
Byrne, A. Osteogenesis imperfecta. Case study, Radiopaedia.org. (accessed on 21 Oct 2022) https://doi.org/10.53347/rID-8133 • CC by-nc-sa 3.0 (modified)
Teenager with
blue sclera. Lateral radiograph of the cervical spine shows the tip of the dens extends well above Chamberlain’s line.The diagnosis was basilar invagination due to osteogenesis imperfecta.
pediatricimaging.org • CC-by-nc-sa 4.0
Fetus being
radiographed post mortem. CXR AP (above) shows multiple bilateral acute rib fractures resulting in a very small thorax. AP radiograph of the lower extremities (below) shows multiple healing fractures of the bilateral femora, tibiae and fibulae resulting in them all having a bowed appearance.The diagnosis was osteogenesis imperfecta Type II perinatal lethal.
pediatricimaging.org • CC-by-nc-sa 4.0
Osteogenesis
imperfecta: X-rays of a full term neonate boy who was found to have crackles from the chest. Later genetic testing revealed osteogenesis imperfecta type 5. Left arm with a periosteal reaction indicating a fracture.
Wikipedia • CC0
editX-rays of
a full term neonate boy who was found to have crackles from the chest. Later genetic testing revealed osteogenesis imperfecta type 5. Vertebrae and ribs... ...with multiple rib fractures Right leg, with somewhat deformed long bones (mainly the femur) with widened metaphyses There is also a cortical fracture on the fibula Left leg. Left arm... ...with a periosteal reaction indicating a fracture. Right arm
Wikipedia • CC0
Infant with a
bowing deformity of the left upper extremity. AP radiograph of the left upper extremity shows the left humerus to have a bowing deformity and several healing fractures within it. The left radius also has a bowing deformity.The diagnosis was osteogenesis imperfecta.
pediatricimaging.org • CC-by-nc-sa 4.0
Radiopaedia • CC-by-nc-sa 3.0 • de

Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.

The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well as, blue sclera, dental fragility and hearing loss. There is extreme variation in clinical symptoms based on genetic basis and subtypes. Osteogenesis imperfecta affects both bone quality and quantity (i.e. bone mass).

Epidemiology

The estimated incidence is approximately 1 in every 12,000-15,000 births . Osteogenesis imperfecta occurs with equal frequency among males and females and across races and ethnic groups. The lifespan varies with the type (see osteogenesis imperfecta classification).

Clinical presentation

The clinical presentation of osteogenesis imperfecta is highly variable, ranging from a mild form with no deformity, normal stature and few fractures to a form that is lethal during the perinatal period.

In general, four major clinical features characterize osteogenesis imperfecta :

  • osteoporosis with abnormal bone fragility
  • blue sclera
  • dentinogenesis imperfecta
  • hearing impairment

    • Other features include ligamentous laxity and hypermobility of joints, short stature and easy bruising.

    Pathology

    A fundamental pathology in osteogenesis imperfecta is a disturbance in the synthesis of type I collagen, which is the predominant protein of the extracellular matrix of most tissues. In bone, this defect results in osteoporosis, thus increasing the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentin, sclerae, ligaments, blood vessels and skin .

    Genetics

    Osteogenesis Imperfecta is the result of a mutation in one of the two genes that carry instructions for making type 1 collagen. Mutations in the COL1A1 and COL1A2 genes, which encode the α2 and α2 polypeptide chains , are responsible for more >90% of all cases.

    Depending on the type, the inheritance of the disorder can be autosomal dominant (>95%), autosomal recessive (<10%) or by sporadic mutation

    Classification

    The first classification of osteogenesis imperfecta was by Looser, in 1906 who divided the condition into two forms, osteogenesis imperfecta congenita (also known as Vrolik disease) and osteogenesis imperfecta tarda (also known as Ekman-Lobstein disease).

    Since then newer classification systems were based on work by Sillence and colleagues in 1979, have taken into account the phenotypic features and the mode of inheritance. This has since been revised and up to eight forms of osteogenesis imperfecta have been identified.

    Three main types are easily distinguished

  • mild: type I
  • perinatal lethal: type II
  • progressive deforming: type III

    • Types IV to VIII are variable in severity and uncommon (see osteogenesis imperfecta classification for further detail).

    Associations

    Radiographic features

    Plain radiograph

    This is the preferred initial examination.

    Prenatal ultrasound

    The prenatal sonographic features are often useful in type II (perinatal) and type III forms.

    • may show decreased calvarial ossification
      • this may result in visualization of fetal brain detail
      • the skull may deform/compress with transducer pressure
    • may show evidence of fractures 
      • long bones may appear shortened and/or angulated as a result
      • there may be a sonographic gap along the length of a long bone 
      • ribs may have a beaded appearance
    • there may be the presence of polyhydramnios
    CT

    While showing most of the plain film features, CT may also better demonstrate:

    MRI
    • can be used to assess the extent of basilar invagination

    Treatment and prognosis

    Prognosis is very variable depending on type ranging from being uniformly lethal from type II to a slight reduction in life expectancy for type I.

    Management options for non-lethal types include:

    • surgical correction of deformities and the prevention of fractures
      • intramedullary rods with osteotomy are used to correct severe bowing of the long bones
      • intramedullary rods are also recommended for children who repeatedly fracture long bones
      • different types of rods (surgical nails) are available to address issues related to surgery, bone size, and the prospect for growth; the two major categories of rods are telescopic and non-telescopic
    • bisphosphonates
    • growth hormone therapy

    Differential diagnosis

    General considerations on pediatric plain films include:

    Siehe auch:
    und weiter:
    Assoziationen und Differentialdiagnosen zu Osteogenesis imperfecta:
    Battered-Child-Syndrom
     
    Wikipedia • Public domain
    Biegungsbruch
     
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    Menkes-Syndrom
     
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    Verbiegung
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    Osteogenesis
    imperfecta Typ 3
    pediatricimaging.org • CC-by-nc-sa 4.0
    Osteogenesis
    imperfecta Typ 1
    pediatricimaging.org • CC-by-nc-sa 4.0
    Osteogenesis
    imperfecta Typ 2
    www.eurorad.org • CC by-nc-sa-4.0
    Osteogenesis
    imperfecta Typ 4
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    Osteogenesis
    imperfecta Typ 5
    Wikipedia • CC0