Generalised orthopaedic conditions Flashcards
What is brittle bone disease also known as
osteogenesis imperfecta
What is osteogenesis imperfecta
A connective tissue disease in which the bones are of decreased density rendering them delicate and prone to fracture
What causes osteogenesis imperfecta
an abnormality of Type 1 collagen which in the eye allows the blue colour of the retina to show though
What is the treatment for osteogenesis imperfecta
none is known
What type of osteogenesis imperfecta is most common
Type 1 - autosomal dominant inheritance
Blue sclera
What is type 2 osteogenesis imperfecta
autosomal recessive inheritance
dark blue sclerae
What is fibrous dysplasia
a condition in which single or multiple cystic lesions occur in the bones
If the lesions in fibrous dysplasia are polyostotic, what might they be associated with
endocrine disturbance and pigmented skin patches
This is known as McCune-Albright syndrome
What is neurofibromatosis
A congenital hamartomatous dysplasia with all cell types affected
What are some characteristics of neurofibromatosis
pigmented skin lesions and multiple fibromata in skin and on peripheral nerves
What is multiple enchondromas
A non-hereditary disorder of the growth plate, resulting in areas of unsoiled hyaline cartilage arising around the growth plate area
What area of the body is often affected in multiple enchondromatosis (Ollier’s disease)
Hands
What is the treatment for multiple enchondromatosis
surgical excision of the troublesome lesions
correcting deformities by osteotomy
What is the commonest of the disorders caused by abnormal maturation of growth plate chondroblasts
Achondroplasia
What type of bones does Achondroplasia most commonly affect and what does this result in
Long bones
results in stereotypical dwarfism - short stature with normal trunk but short limbs