Orthopaedics Flashcards
What is osteogenesis imperfecta?
Genetic condition that results in brittle bones that are prone to fracture
What is osteogenesis imperfecta also know as?
Brittle bone syndrome
What makes up bone?
Collagen framework with mineral inbetween
What part of bone is affected in osteogenesis imperfecta and why is this important?
Collagen which maintains the structure of bone
How does osteogenesis imperfecta usually present?
Recurrent and inappropriate fractures
What are some features associated with osteogenesis imperfecta?
Hypermobility Blue/ grey sclera Triangular face Short stature Deafness Dental problems Bone deformities (bowed legs, scoliosis) Joint/ bone pain
How is osteogenesis imperfecta diagnosed?
Clinically
X-rays can diagnose fractures and bone deformities
Genetic testing is possible but not routinely done
What are the medical treatments for osteogenesis imperfecta?
Bisphosphonates
Vitamin D supplementation
What further actions can be taken to manage osteogenesis imperfecta?
MDT PT OT Paediatrician input Orthopaedic surgeons to manage fractures Specialist nurses Social workers
What causes osteogenesis imperfecta?
Autosomal dominant genetic condition causing defects in T1 Collagen genes
WHat is rickets?
Condition causing defective bone mineralisation
What happens to bones in rickets?
They become soft and deformed
What is rickets known as in adults?
Osteomalacia
What causes rickets?
Vitamin D or calcium deficiency
How do we acquire vitamin D?
In the body in response to sunlight
Obtained through foods such as eggs, oily fish or fortified cereals
What is a rare cause of rickets?
Hereditary hypophosphataemic rickets- genetic defects causing low phosphate in blood
What causes vitamin D deficiency?
Not enough UV radiation (worse for those with darker skin)
Not enough in diet
Malabsorption disorders
Chronic kidney disease
What is the action of vitamin D?
Causes calcium and phosphate absorption in the intestines and kidneys
Regulates bone turnover
Promotes bone reabsorption to boost serum calcium level
Why do inadequate vitamin D levels lead to defective bone mineralisation?
Leads to a lack of calcium and phosphate in the blood, both of which are needed for the construction of bone
What does low calcium lead to?
Secondary hyperparathyroidism, where the parathyroid gland tries to raise the calcium level by secreting PTH. This stimulated increased reabsorption of calcium from the bones
What are potential symptoms of rickets?
Lethargy Bone pain Swollen wrists Bone deformity Poor growth Dental problems Muscle weakness Fractures
What bone deformities can occur with rickets?
Bowed legs Knock knees Rachitic rosary Craniotabes Delayed teeth
What is rachitic rosary?
Where the ends of the ribs expand at the costochondral junctions, causing lumps along the chest
What is craniotabes?
Soft skull with delayed closure of the sutures and frontal bossing