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Flashcards in Genetic disorders Deck (16)
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What is osteogenesis impefecta?

A defect of the organisation and maturation of type 1 collagen


What are the signs of osteogenesis imperfecta?

Multiple fractures in childhood
Short stature
Blue sclera
Multiple deformities


What are the implications of having the autosomal recessive type of osteogenesis imperfecta?

Fatal in perinatal period
Spinal deformity


What is skeletal dysplasia?

Short stature due to a genetic defect resulting in abnormal development of bone and connective tissue


What is the most common form of skeletal dysplasia?



What deformities does achondrooplasia result in?

Disproportionately short limbs
Prominent forehead
Wide nose


What other complications can skeletal dysplasias be associated with?

Learning difficulties
Spine deformity
Limb deformity
Internal organ dysfunction
Craniofacial abnormalities
Skin abnormalities
Tumour formation (especially haemangiomas)
Joint hypermobility
Atlanto‐axial subluxation
Spinal cord compression (myelopathy)
Intrauterine or premature death


What is Marfan's syndrome?

Autosomal dominant or sporadic mutation of the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity


What are some of the features of Marfan's syndrome?

High arched palate
Pectus excavatum
Eye problems (lens dislocation, retinal detachment)
Aortic aneurysm
Cardiac valve incompetence


What is Ehlers-Danlos syndrome?

A heterogeneous condition which is often autosomal dominantly inherited with abnormal elastin and collagen formation


What are the features of Ehlers-Danlos syndrome?

Profound joint hypermobility
Vascular fragility with ease of bruising
Joint instability


What must be considered when giving surgery to a patient with Ehlers-Danlos syndrome?

Greater risk of bleeding
Poor wound healing
Wound dishiscence


What are muscular dystrophies?

These are rare and usually X‐linked recessive hereditary disorders (therefore only affecting boys) resulting in progressive muscle weakness and wasting


What is Duchenne muscular dystrophy?

A defect in the dystrophin gene involved in calcium transport results in muscle weakness which may only be noticed when the boy starts to walk with difficulty standing and going up stairs


What is the progression of Duchenne muscular dystrophy?

Presentation when starting to walk with difficulty standing and going up stairs
Progressive muscle weakness follows and by the age of 10 or so he can no longer walk and by age 20 progressive cardiac and respiratory failure develop with death typically in the early 20s


How is the diagnosis of Duchenne muscular dystrophy confirmed?

Raised serum creatinine phosphokinase
Abnormalities in muscle biopsy