Congenital MSK Disorders Flashcards Preview

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Flashcards in Congenital MSK Disorders Deck (28)
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1
Q

what is osteogenesis imperfecta

A

also known as brittle bone disease it is a defect of the maturation and organisation of type 1 collagen (which accounts for most of the organic composition of bone)

2
Q

what are the symptoms of autosomal dominant cases (majority) of osteogenesis imperfecta

A

multiple fragility fractures of childhood short stature with multiple deformities blue sclerae with loss of hearing

3
Q

what are the symptoms of autosomal recessive cases of osteogenesis imperfecta

A

fatal in perinatal period or associated with spinal deformity

4
Q

how do the bones tend to be in osteogenesis imperfecta

A

thin (gracile) with thin cortices and osteopenia

5
Q

what do different types of osteogenesis imperfecta look like

A
6
Q

how is osteogenesis imperfecta diagnosed

A

thorough but sensitive history and exam beware of child abuse or ostopenia (result from prematurity and result in low energy fractures)

7
Q

what is treatment of osteogenesis imperfecta

A

fractures heal with abundant but poor quality callus and treated with splintage, traction or surgical stabilisation

8
Q

some cases of osteogenesis imperfecta develop progressive deformity, how is this treated

A

may require multiple osteotomies and intramedullary stabilisation for correction (Sofield procedure)

9
Q

what is skeletal dysplasia

A

medical term for short stature which is due to genetic error (hereditary or sporadic)

10
Q

what is most common type of skeletal dysplasia and what are its features

A

achondroplasia autosomal dominant but >80% cases sporadic short limbs with prominent forehead and widened nose joints are lax and mental development normal

11
Q

other types of skeletal dysplasia may be associated with what

A

learning difficulties spine deformity limb deformity internal organ dysfunction craniofacial abnormalities tumour (esp haemangiomas) joint hyper mobility atlanta-axial subluxation spinal cord compression (myelopathy) intrauterine or premature death

12
Q

how is skeletal dysplasia treated

A

genetic testing orthopedic = deformity correction (eg scoliosis) and limb lengthening growth hormone therapy may be appropriate

13
Q

what are connective tissue disorders associated with

A

disorders of collagen synthesis (mainly type 1) that affects soft tissues more than just bone

14
Q

what are examples of connective tissue disorders

A

generalised (familial) joint laxity marfan’s syndrome ehlers-danlos syndrome downs syndrome

15
Q

what is generalised familial joint laxity and what is consequence

A

autosomal dominant hypermobility more prone to soft tissue injuries (ankle sprains) and recurrent dislocations

16
Q

what is marfans syndrome

A

autosomal dominant sporadic mutation of fibrillar gene which results in tall stature with disproportionately long limbs and ligamentous laxity

17
Q

what are associated features of marfans

A

eye problems eg glaucoma high arched palate in mouth spontaneous pneumothorax apical blebs pectus excavatum or carinatum aortic aneurysm, dissection or regurgitation mitral valve prolapse or regurg arachnodactyly (long fingers/toes) scoliosis

18
Q

what is ehlers danlos syndrome

A

heterogenous condition (often autosomal dominant) where there is abnormal elastin and collagen formation

19
Q

what is clinical features of ehlers danlos

A

profound joint hypermobility vascular fragility with ease of bruising joint instability scoliosis bony surgery may be required but problem cause bleeding and poor skin healing (wound dishcence and stretched scar)

20
Q

what are the MSK features of down syndrome

A

short stature joint laxity recurrent dislocation (esp patella) which may require stabilisation atlanto-axial instability in c spine

21
Q

what are muscular dystrophies

A

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

22
Q

what are the two kinds of muscular dystrophy

A

duchenne muscular dystrophy becker’s muscular dystrophy

23
Q

what is duchenne muscular dystrophy and what is its sign

A

defect in dystrophin gene involved in calcium transport may only be noticed when boy start to walk with difficulty standing (Gower’s sign) and going up stairs

24
Q

what is consequence of duchenne muscular dystrophy

A

progressive muscle weakness and by age 10 he can no longer walk by age 10 progressive cardiac and respiratory failure develop with death typically in early 20s

25
Q

what is beckers muscular dystrophy

A

similar to DMD but milder so affected boys able to walk into teens and may survive into 30s or 40s

26
Q

although these only occur in boys due to X linked inheritance, can vvvvvvv occasionally happen in girls, when

A

if gets one faulty gene on one chromosome and the girl lacks a second X chromosome entirely or if the second X chromosome has sustained serious damage

27
Q

how are muscular dystrophies diagnosed

A

confirmed by raised serum creatinine phosphokinase abnormality on muscle biopsy

28
Q

how is muscular dystrophies treated

A

physiotherapy, splintage and deformity correction may prolong mobility severe scoliosis may be corrected by spinal surgery