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Condition/Disorder Synonym

  • Brittle bone disease

ICD-9-CM Code

  • 756.51 Osteogenesis imperfecta

ICD-10-CM Code

  • Q78.0 Osteogenesis imperfecta

Preferred Practice Pattern1

  • 5B: Impaired Neuromotor Development

Key Features

Description

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

Essentials of Diagnosis

  • 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

General Considerations

  • 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

Demographics

  • 1 in 20,000 births2

  • Infants

  • Males and females affected equally2

Clinical Findings

Signs and Symptoms

  • 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

Functional Implications

  • 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

Possible Contributing Causes

  • Inherited disorder

Differential Diagnoses

  • Child abuse

  • Juvenile osteoporosis

  • Temporary brittle-bone syndrome

  • Hypophosphatasia

  • Menkes syndrome

  • Steroid-induced osteoporosis

Means of Confirmation or Diagnosis

Laboratory Tests

  • DNA analysis

  • Collagen testing

Imaging

  • Prenatal ultrasound

  • X-rays

Diagnostic Procedures

  • Chorionic villus sampling (CVS)

  • Amniocentesis

  • Skin punch biopsy

Findings and Interpretation

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

Treatment

Medication

  • Pamidronate

Medical Procedures

  • Surgical correction of fractures, such as intramedullary rod

  • Surgical correction of scoliosis

Referrals/Admittance

  • To hospital for surgical ...

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