Bone & Connective Tissue Disorders 4%

Question 1

What’s the difference between patients who have achondroplasia and pseudochondroplasia?

Answer 1

Achondroplasia - short stature at birth or history of IUGR/short femoral length on US

Pseudoachondroplasia - normal birth length with subsequent failure of linear growth

Question 2

An Amish patient has abnormal hair and susceptibility to infections. What condition is on the differential?

Answer 2

Cartilage-hair hypoplasia (McKusick metaphyseal dysplasia)

Metaphyses are abnormal with sparing of the epiphyses and spine

Question 3

What is the finding of iliac horns - horn like projections of the the iliac bones - pathognomonic for?

Answer 3

Nail-patella syndrome

Question 4

What type of study is the gold standard for the diagnosis of skeletal dysplasia?

Answer 4

X-rays

Question 5

What is the epidemiology for hypermobility syndrome?
Sex ratio
Race
Age

Answer 5

Sex ratio F>M
Race: Asian and African American > Caucasian
Age: diagnose after age 5, hypermobility decreases with age

Question 6

What Beighton score defines hypermobility?

Answer 6

6/9 for prepubertal patients
5/9 for postpubertal patients
4/9 for patients > 50

Question 7

What gene mutation is associated with classical EDS?

Answer 7

Major: COL5A1 - Type V collagen
Rare: COL1A1 - Type I collagen

Question 8

What gene mutation is associated with vascular EDS?

Answer 8

COL3A1

Question 9

A teenage male is very tall and thin. His arm span is greater than his height. He has pectus excavatum and kyphoscoliosis.

What is the diagnosis?
What is an eye complication?
What are some cardiac complications?
What is the mutation associated with this condition?

Answer 9

Marfan syndrome

Dislocation of the lens of the eye

Aortic root dilation
Heart murmurs
Midsystolic click

AD mutation in fibrillin gene on chromosome 15

Question 10

A patient has rigid pes planus. What is a potential complication?

Answer 10

Tarsal coalition (fibrous or bony connection between 2+ tarsal bones, present at birth)

Prevalence of tarsal coalition ~1-2%; usually picked up around the 2nd decade of life
Bilateral in 50% of cases
Often family history
90% are calcaneonavicular and talocalcaneal coalitions

Question 11

A patient has rigid pes planus. What condition may be causing it?

Answer 11

Tarsal coalition (fibrous or bony connection between 2+ tarsal bones, present at birth)

Prevalence of tarsal coalition ~1-2%; usually picked up around the 2nd decade of life
Bilateral in 50% of cases
Often family history
90% are calcaneonavicular and talocalcaneal coalitions

Question 12

What is the management of flexible pes planus?

Answer 12

Activity modification
Ice, massage, supportive footwear (orthotics)
Stretching, strengthening exercises
Surgery should be avoided in pediatrics

Question 13

What is the management of rigid pes planus?

Answer 13

For rigid flat foot, symptomatic coalitions should receive non-operative treatment for 6 months (orthotics, walking boot, immobilization of the foot, NSAIDs, and intra-articular steroid injections)

If failed, may undergo open resection if they have a single coalition without degenerative changes

Question 14

A teenage female complains of slowly worsening Peripatellar or retropatellar pain running cross country or climbing stairs. She also has pain with prolonged sitting in class. Her knee has “given out” a few times. She has a normal joint exam. What is the diagnosis?

Answer 14

Patellofemoral syndrome

Peripatellar or retropatellar pain during patellofemoral joint loading activities (running, climbing stairs, squatting)
Pain may be present with prolonged sitting with knee flexed (“theatre sign”)
Thought to be a result from biomechanical factors, malalignment of the patella relative to the femoral trochlea, and excessive mechanical loading
“Giving away” sensation - pain-related inhibition of the quadriceps muscle or deconditioning

Question 15

A teenage female presents with anterior knee pain, episodic giving away and locking sensation, and recurrent swelling lasting 1-2 days at a time. There is no arthritis on exam. XR normal. What is the diagnosis?

Answer 15

Patellofemoral instability

Question 16

A teenage male complains of activity-related lower leg pain and tenderness along the posteromedial border of the tibia. The pain starts at the beginning of and near the end of weight-lifting work outs. It resolves with rest. There is mild tenderness along the medial aspect of the lower leg. XR is normal. What is the diagnosis?

Answer 16

Shin Splints (Posteromedial TIbial Stress Syndrome)

Question 17

What is the treatment of Shin Splints (Posteromedial TIbial Stress Syndrome)?

Answer 17

Rest, ice, activity modification, PT (improve gastroc and posterior tibialis strength), orthotics

Question 18

What is the treatment of patellofemoral syndrome?

Answer 18

Activity modification
Cryotherapy (ice)
Short-term NSAIDs
PT (focused on patellar tracking exercises, flexibility, strengthening around the hip and knee)
Foot orthoses
Patellar taping
Manual therapy to reduce symptoms

Question 19

A teenage female presents with medial knee pain, patellar snapping, catching during flexion. The patella shutters or “jumps” during knee flexion, extension. What is the diagnosis?

Answer 19

Mediopatellar plica syndrome

Inward folds of the synovial lining that are present in most knees (residual embryonic remnants)

Become symptomatic because of inflammation from acute trauma, repetitive microtrauma, or transient synovitis

Plica is palpable as a tender thickened band when pressed against the edge of condyle
Knee extension test (plica shutter test) - patella shutters or “jumps” during knee flexion, extension

Question 20

What does the MRI show for mediopatellar plica syndrome?

What is the treatment?

Answer 20

MRI may show thickening of the plica and any associated synovitis or reactive changes to subchondral bone

Treatment is patellar mobilization, massage, PT, NSAIDS, intra-articular steroids
Surgical removal of plica if severe

Question 21

A 10-year-old boy presents with activity related knee pain and swelling with occasional locking. On exam, he has focal bony tenderness near his knee, mild joint effusion. XR reveals a radiolucent lesion and a “loose body” on 4-view XR. What is the diagnosis?

Answer 21

Osteochondritis dissecans

Idiopathic lesion of bone and cartilage, resulting in bone necrosis and loss of continuity of subchondral bone
Partial or complete separation of the articular cartilage w or wo involvement of subchondral bone
Due to acute trauma, repetitive microtrauma, genetic factors, vascular insufficiency, ossification variants, inflammation, or normal growth variant

M>F with knee most commonly affected (75%)
Activity related pain and swelling, locking may be present
Exam - focal bony tenderness, joint effusion, evidence of a loose fragment with extension block or palpable loose body

Need 4-VIEW x-rays of knee

Question 22

What is the treatment for osteochondritis dissecans?

Answer 22

Treatment depends on site and stage of lesions
Stage I/II lesions in skeletally immature patients have the best prognosis

Protected weight bearing, immobilization, cryotherapy, NSAIDS
Up to 6-18 months of PT

If symptomatic lesions after conservative therapy and/or unstable/displaced OCD, needs surgery
⅓ of all lesions progress to surgery

Surgery - microfracture/drilling, debridement, fragment excision/fixation, autograft, allograft, autologous chondrocyte implantation

May be found in patients with JIA but not necessarily correlated to or secondary to JIA

Question 23

What genetic disease has abnormal facial features, thinning hair/balding, short stature, shortened hands and feet, and hip dysplasia in adolescents?

Answer 23

trichorhinophalangeal syndrome

trichorhinophalangeal syndrome (TRPS) type I autosomal dominant inheritance pattern, hair abnormalities, facial features, and skeletal findings.

Question 24

What genetic disease has trigger fingers, pericarditis, hip deformities, and bone cysts?

Answer 24

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive disorder caused by mutations in the proteoglycan-4 gene encoding for the protein lubricin. These patients have trigger fingers (camptodactyly), pericarditis, hip deformities (coxa vara), and bone cysts.

Question 25

What genetic syndrome presents at 3 to 8 years of age, and results in progressive stiffness, swelling, weakness with waddling gait, joint space narrowing, and periarticular osteopenia, with eventual metaphyseal enlargement, contractures, and kyphoscoliosis?

Answer 25

Progressive pseudorheumatoid arthropathy

is also autosomal recessive, presents at 3 to 8 years of age, and results in progressive stiffness, swelling, weakness with waddling gait, joint space narrowing, and periarticular osteopenia, with eventual metaphyseal enlargement, contractures, and kyphoscoliosis.

Question 26

What is Kohler disease?

Answer 26

Kohler disease is avascular necrosis of the navicular bone that results in midfoot pain with swelling. The pain is often associated with a limp, and there is likely midfoot tenderness. Radiographs would show alteration of the navicular bone.