Flashcards in Congenital disorders of the MSK System Deck (20):
What is skeletal dysplasia?
Medical term for short stature, due to a genetic error resulting in abnormal development of bone and connective tissue.
Describe the features of achondroplasia
Autosomal dominant, but 80% sporadic. Disproportionately short limbs with prominent foreheard and widened nose. Lax joints, normal mental development
What symptoms can skeletal dysplasia 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) and intrauterine or premature death.
What treatment is recommended in achondroplasia, and some skeletal dysplasias?
Genetic testing of child and family. Deformity correction and limb lengthening. Growth HT may be appropriate
What are congenital connective tissue disorders due too?
Genetic disorders of collagen synthesis (mainly type 1 found in bone, tendon and ligaments), resulting in joint hypermobility. Often soft tissues affected more than bone in CT disorders
What is the inheritance in Marfan's?
Autosomal dominant or sporadic mutation of the fibrillin gene
What are the main features of Marfan's?
Tall stature with disproportionately long limbs and ligamentous laxity
What are the associated features of Marfan's?
High arched palate, scoiliosis, flattening of chest (pectus excavatum), eye problems (lens dislocation, retinal detachment), aortic aneurysm and cardiac valve incompetence
What may cause premature death in a Marfan's patient?
What is the treatment of Marfan's?
Rarely require surgery (scoliosis and bony procedures for joint instability e.g. fusion). Soft tissue stabilisation of dislocating joints usually disappointing as abnormality cannot be corrected
What is Ehlers Danlos syndrome?
Heterogenous condition which is often AD inherited with abnormal elastin and collagen formation.
What are the clinical features of Ehlers Danlos?
Profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis.
What is the treatment for Ehlers Danlos?
Bony surgery may be required for dislocating joints, bleeding can be problem however and skin healing can be poor-stretched scars or wound dehiscence common.
What are the orthopaedic features of Down syndrome?
Short stature, joint laxity with possible recurrent dislocation (especially patella) which may require stabilisation. Atlanto-axial instability in c-spine can also occur
What are muscular dystrophies?
Rare and usually X-linked recessive hereditary disorders (male only) resulting in progressive muscle weakness and wasting
In what gene is the defect found in Duchenne muscular dystrophy?
Dystrophin gene-involved in calcium transport
What happens in Duchenne md?
Gene defect results in muscle weakness which may only be noticed when the boy starts to walk with difficulty standing (Gower's sign) and going up stairs
What occurs around age 10 then 20 in Duchenne md?
At 10 or so the patient can no longer walk, and by 20 progressive cardiac and resp failure develop with death typically in the early 20s.
How is Duchenne's diagnosed?
Confirmed by raised serum creatinine phosphokinase and abnormalities on muscle biopsy