MSK Flashcards
What is osteogenesis imperfecta?
Osteogenesis Imperfecta (OI) is a genetic condition present from birth.
Its primary feature is fractures usually caused by minimal impact
What is the cause of osteogenesis imperfecta?
Defect in the COLIA1 and COLIA2 genes
These produce collagen which is loacking in osteogenesis imperfecta patients
What are the symptoms of osteogenesis imperfecta?
Fractures can occur with minimal force – this varies from child to child.
Bones may have an altered shape, for example, they may be shortened or bowed.
The whites of the eyes may appear more blue or grey than normal.
Joints can be hypermobile or very flexible
Some degree of joint or bone pain may be present
Problems with formation of teeth (dentinogenesis, or DI)
Children with OI may tire easier than other children
Hearing problems are known to affect people with OI usually after puberty.
Children with OI tend to be shorter than other children.

What are the different types of osteogenesis imperfecta?
Type 1
Least severe and most common
Type 2
More severe
Type 3
Very severe
Type 4
Moderate to severe
How is osteogenesis imperfecta diagnosed?
Adjusted
- Calcium
- Phosphate
- Parathyroid hormone and
- ALP results are ALL usually normal in osteogenesis imperfecta
What is the treatment for osteogenesis imperfecta?
- No cure
- Specific exercises
- Placement of rods into the bones to strengthen them
What is rickets?
Rickets is a preventable bone disease that causes weak, soft bones.
If a child has softer bones, the bones can bend and become an abnormal shape.
Rickets only occurs in growing bones,
What is the cause of rickets?
Low vitamin D
What are the symptoms of rickets?
- Legs that are an abnormal shape (most commonly ‘bow-legs’ but can also be ‘knock-knees’ - it is normal to have some bowing before two years old and some knock-knees around the age of four)
- Swelling at the wrists, knees and ankles
- Late tooth eruption problems with tooth enamel
- Late closure of the fontanelle
- Soft skull bones (craniotabes)
- Poor growth
- Late crawling and walking
- Bone fractures after minor falls or traumas
How do you diagnose rickets?
-
Blood and urine tests
- 5 OH vitamin D is the best indicator of disease
- Reduced serum calcium and phosphate
- Increased alkaline phosphatase
- Decreased urinary calcium
-
Skull
- Delay in the closure of the soft spots (fontanels).
-
Legs
- Bowing of the legs is common with rickets.
-
Chest
- Flatten and cause their breastbones to protrude.
What is the treatment for rickets?
Vitamin D
Calcium supplements
What is transient synovitis?
Transient synovitis is sometimes referred to as irritable hip. It generally presents as acute hip pain associated with a viral infection
What is the cause of transient synovitis?
It occurs when a viral infection, such as an upper respiratory infection, moves to and settles in the hip joint.
Who is more common to get transient synovitis?
What age is most common?
Boys are two to four times more likely to develop it
2-10 years old
What are the symptoms of transient synovitis?
- Limp
- Refusal to bear weight
- Hip, groin and/or thigh pain
- Low grade fever
- Previous viral infection
How do you diagnose transient synovitis?
- X-rays
- Blood work (CBC, CRP, ESR)
- Ultrasound of the hip to look for fluid collection
What is the treatment of transient synovitis?
Does not require treatment
Take ibuprofen/naproxen
What is septic arthritis?
Painful infection in a joint
What is the most common causative organism for septic arthritis?
Staph Aureus
What are the symptoms of septic arthritis?
Septic arthritis typically causes extreme discomfort and difficulty using the affected joint.
The joint could be swollen, red and warm, and you might have a fever.
How do you diagnose septic arthritis?
Joint fluid analysis
Laboratory tests can determine what organism is causing your infection, so your doctor will know which medications to prescribe.
Blood tests
Signs of infection
Imaging tests
X-rays and other imaging tests of the affected joint can assess damage to the joint.
What is the treatment for spetic arthritis?
Joint aspiration
Arthroscopy if multiple joint aspirations are needed
Open surgery
First Line
Flucloxacillin + fusidic acid
If penicillin allergic
Clindamycin
If MRSA resistant
What is osteomyelitis?
Osteomyelitis is an infection that most often causes pain in the long bones in the legs.
What is the cause of osteomyelitis?
Staphylococcus bacteria
From:
The bloodsteam
Injuries
Surgery
What are the symptoms of osteomyelitis?
- Fever
- Swelling, warmth and redness over the area of the infection
- Pain in the area of the infection
- Fatigue
How do you diagnose osteomyelitis?
MRI
What is the treatment of osteomyelitis?
First Line
Flucloxacillin for 6 weeks
If penicillin allergic
Clindamycin
If MRSA resistant
Vancomycin
What is Perthes’ disease?
Perthes’ disease is a condition affecting the hip joint in children

What is the cause of Perthes’ disease?
Part or all of the femoral head (top of the thigh bone: the ball part of the ball-and-socket hip joint) loses its blood supply and may become misshapen.
This may lead to arthritis of the hip in later years
What are the symptoms of Perthes’ disease?
Pain in the groin, the thigh or the knee - particularly after physical activity
Limp
Restricted range of movement (stiffness) of the hip joint
These symptoms may persist on and off for many months
The disease itself lasts for a few years

How do you diagnose Perthes’ disease?
Physical examination tests
Limits the ability to move the leg away from the body (abduction), and twist the leg toward the inside of the body (internal rotation)
X-rays
X-rays will show the condition of the bone in the femoral head and help your doctor determine the stage of the disease
What is the treatment for Perthes’ disease?
To keep the femoral head within the acetabulum
Cast, braces
If less than 6 years
Observation
Older
Surgical management with moderate results
Operate on severe deformities

What is Kohlers disease?
Kohler disease is a condition that affects a bone at the arch of the foot called the tarsal navicular bone

What are the symptoms of Kohlers disease?
Swelling of the foot
Redness of the affected area
Tenderness, particularly along the length of the arch
Limp or abnormal gait (style of walking)
What is the cause of Kohlers disease?
The exact underlying cause of Kohler disease is unknown.
Excessive strain on tarsal navicular bone and its associated blood vessels before the bone is completely ossified (hardened)
How is Kohlers disease diagnosed?
Clinical history and examination
X-ray
What is the treatment for Kohlers disease?
Resolves itself over time
Plaster cast or support
What is discoid meniscus?
Healthy menisci are shaped like crescent moons (in fact, “meniscus” comes from the Greek word for crescent).
A discoid meniscus is thicker than normal, and often oval or disc-shaped. It is more prone to injury than a normally shaped meniscus.

What is the cause of discoid meniscus?
The cause of discoid meniscus is not known. It is a congenital (present at birth) defect.
What are the symptoms of a discoid meniscus?
- Pain
- Stiffness or swelling
- Catching, popping, locking of the knee
- Feeling that the knee is “giving way”
- Inability to fully extend (straighten) the knee
What are the types of discoid meniscus?
Incomplete
The meniscus is slightly thicker and wider than normal
Complete
The meniscus completely covers the tibia.
Hypermobile Wrisberg
This occurs when the ligaments that attach the meniscus to the femur and tibia are absent

How do you diagnose discoid meniscus?
Medical history and examination
X-ray
May appear widened
MRI
Abnormal shape

What is the treatment for discoid meniscus?
- Knee arthroscopy
- Saucerization
What is slipped captial femoral epiphysis?
Slipped capital femoral epiphysis (SCFE) is a hip condition that occurs in teens and pre-teens who are still growing.
For reasons that are not well understood, the ball at the head of the femur (thighbone) slips off the neck of the bone in a backwards direction.

What age is most common for slipped capital femoral epiphesis?
10-15 years
What are the different types of slipped capital femoral epiphysis?
Stable SCFE
In stable SCFE, the patient is able to walk or bear weight on the affected hip, either with or without crutches. Most cases of SCFE are stable slips.
Unstable SCFE
This is a more severe slip. The patient cannot walk or bear weight, even with crutches. Unstable SCFE requires urgent treatment. Complications associated with SCFE are much more common in patients with unstable slips.
What are the symptoms of slipped captial femoral epiphysis?
- Intermittent pain in the groin, hip, knee and/or thigh for several weeks or months
- This pain usually worsens with activity
- The patient may walk or run with a limp after a period of activity
- Loss of internal rotation of the leg in flexion
How do you diagnose slipped captial femoral epiphysis?
- Pain with extremes of motion
- Limited range of motion in the hip–especially limited internal rotation
- Involuntary muscle guarding and muscle spasms
-
X-ray - BOTH HIPS
- Head of the thighbone appears to be slipping off the neck of the bone

What is the treatment for slipped capital femoral epiphysis?
- Internal fixation: typically a single cannulated screw placed in the center of the epiphysis

What is Osgood-Schlatter Disease?
Osgood-Schlatter disease (OSD) is swelling and irritation of the growth plate at the top of the shinbone
What is the cause of Osgood-Shlatter disease?
- The apophysis is the portion of the epiphysis which is attached to a tendon and subjected to tensile forces.
- In the knee, this is the tibial tuberosity where the patella tendon inserts

What are the symptoms of Osgood-Schlatters?
- Knee pain and tenderness at the tibial tubercle
- Swelling at the tibial tubercle
- Tight muscles in the front or back of the thigh
How is Osgood-Schlatters disease diagnosed?
- Clinical examination
- X-rays helpful
What is the treatment for Osgood-Schlatters?
- NSAIDS
- Stretching
- Ice
What is developmental dysplasia of the hip?
Developmental dysplasia of the hip (DDH) is a condition where the “ball and socket” joint of the hip does not properly form in babies and young children.
What are the risk factors for developmental dysplasia of the hip?
- Female sex: 6 times greater risk
- Breech presentation
- Positive family history
- Firstborn children
- Oligohydramnios
- Birth weight > 5 kg
- Congenital calcaneovalgus foot deformity
What is the cause of developmental dysplaisa of the hip?
In DDH, the socket of the hip is too shallow and the femoral head is not held tightly in place, so the hip joint is loose. In severe cases, the femur can come out of the socket (dislocate).

What are the symptoms of developmental dysplasia of the hip?
- Developing a limp
- Hip pain – especially during the teenage years
- Painful and stiff joints (osteoarthritis)
How is developmental dysplasia of the hip diagnosed?
Barlow and ortolani
Test within 72 hours
Ultrasound
More than 4.5 years
X-ray

What is the management for developmental dysplasia of the hip?
- Most unstable hips will spontaneously stabilise by 3-6 weeks of age
- Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
- Older children may require surgery
What further screening is there for DDH after birth?
All breech babies at or after 36 weeks gestation require USS for DDH screening at 6 weeks regardless of mode of delivery
What is Juvenule idiopathic arthritis?
Juvenile idiopathic arthritis, formerly known as juvenile rheumatoid arthritis, is the most common type of arthritis in children under the age of 16.
What is oligoarticular (or pauciarticular) juvenile idiopathic arthritis (JIA)?
Is the most common presentation of JIA and is defined as affecting up to four joints
Family history for autoimmune disease (systemic lupus erythematosus in this case) is a risk factor for JIA.
What is the cause of juvenile idiopathic arthritis?
Juvenile idiopathic arthritis occurs when the body’s immune system attacks its own cells and tissues.
It’s not known why this happens, but both heredity and environment seem to play a role
What are the symptoms of juvenule idipathic arthritis?
Salmon-pink rash
Pain
Swelling
Joint swelling is common but is often first noticed in larger joints such as the knee.
Stiffness
You might notice that your child appears clumsier than usual, particularly in the morning or after naps.
Fever
Swollen lymph nodes and rash. In some cases
How do you diagnose juvenile idiopathic arthritis?
ESR
High
CRP
High
ANA
Positive
RF
Usually negative
What is the treatment of juvenile idiopathic arthritis?
NSAIDs
DMARDs
Methotrexate
Biologic agents
Corticosteroids
Prednisolone
What is the complication of juvenile idiopathic arthtitis?
Chronic anterior uveitis
WHAT IS PLAGIOCEPHALY?
- Parallelogram shaped head
- The incidence of plagiocephaly has increased over the past decade. This may be due to the success of the ‘Back to Sleep’ campaign
WHAT ARE THE CAUSES OF HYPOTONIA?
-
Central causes
- Down’s syndrome
- Prader-Willi syndrome
- hypothyroidism
- cerebral palsy (hypotonia may precede the development of spasticity)
-
Neurological and muscular problems
- Spinal muscular atrophy
- Spina bifida
- Guillain-Barre syndrome
- Myasthenia gravis
- Muscular dystrophy
- Myotonic dystrophy