Paediatric Orthopaedics Flashcards
What is the medical term for Brittle Bone Disease?
osteogenesis imperfecta
Osteogenesis imperfecta is a congenital disorder of which structural fibre?
a defect in the maturation and organisation of type 1 collagen.
What are the features of osteogenesis imperfecta?
multiple fragility fractures in childhood
short stature w/ multiple deformities
blue sclerae
hearing loss
osteopenia from prematurity -> low energy fractures
thin bones with thin cortices and osteopenia
What is the medical term for short stature?
skeletal dysplasia
What are the two types of short stature?
Proportionate - limbs & spine proportionally short
Disproportionate - limbs shorter/longer than spine
What is the commonest and most recognised type of skeletal dysplasia?
achondroplasia
Disproportionately short limbs, prominent forehead, widened nose, lax joints, normal development -> ?
achondroplasia
Connective tissue disorders due to genetic disorders of collagen synthesis have what effect on the joints?
joint hyper mobility
which type of collagen does osteogenesis imperfecta affect? Where is this type found?
type 1
bone, tendon and ligaments
What are the features of generalised/familial joint laxity?
patients are “double jointed”, more prone to soft tissue injuries (ankle sprains) and recurrent dislocations of joints - these may be painful.
Which disorder is caused by an autosomal dominant or sporadic mutation of the fibrillar gene?
Marfan’s syndrome
Do patient’s with Marfan’s have disproportionately long or short limbs?
disproportionately long limbs with ligamentous laxity
What are the associated features of Marfan’s?
High arched palate Scoliosis Pectus excavatum Lens dislocation, retinal detachement Spontaneous pneumothorax Aortic aneurysms, dissection, regurgitation Mitral valve prolapse, regurgitation
