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Condition/Disorder Synonym

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  • Brittle bone disease

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ICD-9-CM Code

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  • 756.51 Osteogenesis imperfecta

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ICD-10-CM Code

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  • Q78.0 Osteogenesis imperfecta

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Preferred Practice Pattern1

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  • 5B: Impaired Neuromotor Development

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Key Features

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Description

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  • Autosomal dominant genetic disorder that affects type I collagen resulting in osteopenia and frequent fractures that may be apparent in a newborn infant

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Essentials of Diagnosis

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  • Four types

    • Type I: Mild (most common)

    • Type II: Perinatal lethal

    • Type III: Progressive deforming

    • Type IV: Deforming with normal scleras

  • Types I and IV do not have fractures while in utero

  • Type II characterized by fractures in utero

  • Type III characterized by fractures at birth or as infant

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General Considerations

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  • Disorder results from type I collagen impairment that affects skin, bone, connective tissue of organs (including GI tract), and vascular system

  • Type I: fewer fractures after puberty; short stature and hearing loss as adult; blue sclera

  • Type II: usually results in death during infancy due to respiratory problems

  • Type III: usually non-ambulatory as an adult due to progressive deformities from multiple fractures over time; sclera affected; short stature, scoliosis

  • Type IV: short stature as adult, fractures continue as adult, but remains ambulatory; scoliosis; hearing loss; sclera unaffected

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Demographics

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  • 1 in 20,000 births2

  • Infants

  • Males and females affected equally2

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Clinical Findings

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Signs and Symptoms

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  • Fracture(s) at various times throughout lifespan (dependent on type of OI)

  • Blue sclera

  • Deafness at early age

  • Genu varum (bow legged)

  • Scoliosis

  • Kyphosis

  • Muscle weakness

  • Joint laxity

  • Brittle teeth

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Functional Implications

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  • May cause short stature or joint deformities that can interfere with function

  • May cause developmental delay due to immobility or casting associated with fractures

  • Weakness may limit function

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Possible Contributing Causes

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  • Inherited disorder

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Differential Diagnoses

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  • Child abuse

  • Juvenile osteoporosis

  • Temporary brittle-bone syndrome

  • Hypophosphatasia

  • Menkes syndrome

  • Steroid-induced osteoporosis

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Means of Confirmation or Diagnosis

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Laboratory Tests

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  • DNA analysis

  • Collagen testing

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Imaging

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  • Prenatal ultrasound

  • X-rays

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Diagnostic Procedures

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  • Chorionic villus sampling (CVS)

  • Amniocentesis

  • Skin punch biopsy

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Findings and Interpretation

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  • Chorionic villus sampling (CVS) is a prenatal test identifying chromosome abnormalities and other inherited disorders

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Treatment

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Medication

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  • Pamidronate

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Medical Procedures

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  • Surgical correction of fractures, such as intramedullary rod

  • Surgical correction of scoliosis

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Referrals/Admittance

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  • To hospital for surgical ...

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