Genesis Inperfecta AKA "Brittle Bone Disease"

PATHOPHYSIOLOGY

rare hereditary disease mostly caused by mutations impairing collagen synthesis and modification

Diagnostic Test

biochemical testing or DNA-based sequencing of COL1A1 and COL1A2

Signs and Symptoms

type I OI have bone fractures during childhood and adolescence often due to minor trauma

Infants with type II have bones that appear bent or crumpled and fractured before birth. Their chest is narrow and they have fractured and misshapen ribs and underdeveloped lungs. These infants have short, bowed arms and legs; hips that turn outward; and unusually soft skull bones

Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in early infancy. Some infants have rib fractures that can cause life-threatening problems with breathing. Bone abnormalities tend to get worse over time and often interfere with the ability to walk.

studying collagens taken from a small skin biopsy

blood sample for DNA extraction

Interventions

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Nursing Diagnosis

  1. Impaired physical mobility related to loss of integrity of bone structure

1A. Educate and encourage PT the use of brace as indicated

1B. Implement active range of motion exercise to decrease the risk of muscle atrophy

1C. Encourage patient to become more involved in own care related too physical immobility

  1. Risk for injury related to fragile bones

1D. Educate family on Assistive device

2A. provide signs or secure a wristband identification to remind healthcare providers to implement fall precaution behaviors.

2B. Decrease physical activity as to not exacerbate current ailments

2C. Validate the patient’s feelings and emotions regarding current health status.