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Osteogenesis Imperfecta


General Considerations

 

  • Hereditary, non-sex linked disorder leading to increased fragility of the bones
  • Caused by mutations in genes that code for type I procollagen (COL1A1 and COL1A2)
  • Hearing loss occurs in half of Type I individuals
  • There are 4 types

Type

Inheritance

Comments

I

Autosomal dominant

Mildest. Findings may be limited to blue sclerae and musculoskeletal pain from joint hypermobility. Recurrent fractures in childhood possible

II

Autosomal recessive

(Neonatal lethal type or osteogenesis imperfecta congenita). Most severe and lethal. Multiple congenital fractures result in shortened extremities. Blue sclerae. Skull is soft and, when palpated, feels like a bag of bones. Trauma during delivery may lead to intracranial hemorrhage and stillbirth. Neonates may die suddenly during the first few days or weeks of life.

III

Autosomal recessive

Most severe nonlethal form. Short stature, spinal curvature, and multiple, recurrent fractures. Macrocephaly with triangular facies and pectal deformities common. Scleral hue varies.

III

Autosomal dominant

Intermediate in severity. Survival rate high. Bones fracture easily in childhood before adolescence. Sclera typically normal in color. Height is moderate-short stature. These patients may benefit from treatment.

 

Clinical Findings

  • Fracture and bruise easily
  • See table above

Imaging Findings

  • Multiple fractures
  • Wormian bones
  • Beaded ribs
  • Platyspondyly
  • In mild type, there may be  thinning of the long bones with thin cortices
  • In more severe, cystic metaphyses, popcorn appearance of the growth cartilages, thin bones, deformities of the long bones due to multiple fractures, rib fractures and vertebral fractures

Differential Diagnosis

  • Rickets
  • Child abuse
  • Congenital syphilis

Treatment

  • Growth hormone
  • Bisphosphonates

Prognosis

  • See table above

 

Osteogenesis Imperfecta


Osteogenesis Imperfecta. There are multiple fractures of the long bones and ribs (black and white arrows) with resultant deformities and cystic changes. There is thinning of the cortices
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Osteogenesis Imperfecta. eMedicine. H Plotkin, B Buehler, EV Bawle, AA Cacciarelli, MA Pattekar, and ML Windle