Genetic & Paediatric Diseases of the Skeleton Flashcards
(33 cards)
Which condition results from a defect in the maturation and organisation of type 1 collagen?
Osteogenesis imperfecta
Typically an autosomal dominant disorder.
What are features of osteogenesis imperfecta?
Short stature
Blue sclera
Hearing loss
Fragility fractures
What is an important differential to consider in osteogenesis imperfecta?
Non-accidental injury
What is skeletal dysplasia?
A group of conditions resulting in short stature.
What is the most common skeletal dysplasia?
Achrondroplasia
What are features of achrondoplasia?
Short stature
Disproportionate limbs
Prominent forehead
Wide nose
Lax joints
Does achondroplasia affect mental development?
No
Name 3 connective tissue disorders?
General joint laxity
Marfan’s Syndrome
Ehlers-Danlos Syndrome
What is Marfan’s Syndrome?
An autosomal dominant condition affecting the fibrillin gene.
What are features of Marfan’s Syndrome?
Tall stature
Long limbs
Ligamentous laxity
High-arched palate
Scoliosis
Pectus excavatum
Aortic aneurysm
What may result in premature death in those with Marfan’s Syndrome?
Cardiac abnormalities
These include:
Aortic regurgitation
Aortic dissection
Aortic aneurysm
Mitral valve prolapse
What is Ehlers-Danlos Syndrome?
An autosomal dominant condition affecting elastin and collagen formation.
What are factors of Ehlers-Danlos Syndrome?
Hypermobility
Vascular fragility
Easy bruising
Joint instability
Scoliosis
What form of inheritance is associated with muscular dystrophy conditions?
X-linked recessive disorders
Most cases are therefore male.
Which condition produces Gower’s sign?
Duchenne Muscular Dystrophy
How is Duchenne Muscular Dystrophy diagnosed?
Raised serum creatinine phosphokinase levels
Abnormal muscle biopsy
What results in cerebral palsy?
An insult to the brain before, during, or after birth.
Which gender is most commonly affected by developmental dysplasia of the hip?
Females
What is developmental dysplasia of the hip?
A structural abnormality during foetal development resulting in hip joint instability, with risk of subluxation and dislocation.
What tests are used to check for DDH?
Ortolani’s test
Barlow’s test
If Ortolani’s and Barlow’s tests are positive, what further test is needed?
USS
What is transient synovitis of the hip?
A self-limiting condition of the synovium, typically following a URTI.
The most common cause of hip pain in children.
How should transient synovitis of the hip be managed?
NSAIDs and rest.
If unresolving, investigate further.
What is Perthes disease?
Idiopathic osteochondritis of the femoral head, occurring within those aged 4-9 years old. More common in boys.
