Chromosomal

Question 1

What is this condition?

Answer 1

• Down’s syndrome
• the most common chromosomal abnormality
  
  • ​caused by trisomy 21

Question 2

Describe some of the orthopaedic hallmarks of Down’s syndrome?

Answer 2

• Generalised ligamentous laxity adn hypotonia
• C1-2 instability
• Hip subluxation and dislocation
• Patellofemoral insatbility and dislocation
• Scoliosis and spondylolithesis
• Pes planus
• Primus varus
• SCFE

Question 3

What are the other hallmarks of Down’s syndrome?

Answer 3

• Mental retardation
• heart disease 50%
• endocrine disorders ( hypothyroidism)
• preamture aging

Question 4

What is the presentation of Cervical instability in Down’s syndrome?

Answer 4

• May be subtle
• loss or change in milestones
• flexion- extension xrays= increase in ADI

Question 5

What is the tx of cervical instability in down’s syndrome?

Answer 5

Non operative

• Observation
  
  • asymtpomatic pts - avoid contact sports/diving/gymnastics

Surgery

• Posterior cervical fusion
  
  • is symptomatic patients and /or a ADI>10mm

Question 6

What is the tx of patellofemroal instability in down’s syndrome?

Answer 6

Non operatively

• Observation only
  
  • in skeletally mature pts with no pain

Surgery

• Semitendinous reconstruction
  
  • skeletally immature symptomatic pts

Question 7

What is the tx of hip subluxation /dislocation in down’s syndrome?

Answer 7

non operative

• bracing
  
  • indicated in younger child without bony changes

Surgery

• capsulorrhaphy and pelvic/femoral osteotomies
  
  • symptomatic older child
  • assoc with high complications

Question 8

What does this baby have?

Answer 8

• Prader -Willi Syndrome
• Partial deletion of chromsome 15

Question 9

What are the orthopaedic manifesations of Prader-Willis syndrome?

Answer 9

• growth retardation
• hip dysplasia
• Juvenile onset scoliosis

Question 10

Describe the medical manifestaitons of Prader-Willi syndrome

Answer 10

• Floppy hypotonic infant
• Obese
• intellectually impaired
• insatiable appetite
• Hypoplastic genitalia

Question 11

What condition does this child have?

Answer 11

• Turner’s syndrome
• Genetics- 45 XO
• less than 10% are diagnosed antenatally
• largest proportion dx between 10-16 yrs

Question 12

What are the orthopaedic manifestations of Turner’s syndrome?

Answer 12

• Cubitus valgus
• Idiopathic scoliosis- exacerbated by growth hormone
• Genu Vagum
• Short 4th MC
• Congential hip dislocation
• web neck
• osteoporosis

Question 13

What are the medical manifestation of turner’s syndrome?

Answer 13

• Female with Short stature
• Sexual infantilism
• malignant hyperthermia common with anaesthesia

Question 14

What is Rett syndrome?

Answer 14

• A progressive impairment & developmental delays in girls 6-18 months
• MECP2 gene mutation
• 95% de novo mutation
• mutation is on male copy of X chromosome
• Male fetuses don’t survive to term- only 1 X
• Female fetuses ( I normal and 1 abnormal X) survive and manifest disease.

Question 15

What are the characteristics of Rett’s syndrome?

Answer 15

Orthopaedics

• Spasticity & resulting joint contractures
• ataxia
• hypotonia
• bruxism- grinding of teeth
• chorea- abnormal hand movements
• Scoliosis C shaped curve
  
  • doesnt respons to bracing
  • insturmentation must inlcude entire scoliotic and kyphotic curve

Medical

• Progressive impairment and developmetal delays

Question 16

What is Beckwith-weidemann syndrome?

Answer 16

• A congential abnormality defined by
  
  • organomegaly
  • Omphalocele- holein abdomen when born
  • Large tongue​

Question 17

What are the orthopaedic manifestations of Beckwith-Wiedemann syndrome?

Answer 17

• Hemihypertrophy
• Spastic cerebral palsy

Question 18

What do pts with Beckwith-Wiedemann syndrome have a predisposition for?

Answer 18

• Wilms tumours
• Rhabosarcomas