Flashcards in 3- Congenital Disorders Deck (18)
What is osteogenesis imperfecta?
Brittle bone disease
Defect of maturation + organisation of type 1 collagen
Which inheritance pattern does osteogenesis imperfecta usually follow?
List clinical features of osteogenesis imperfecta
What is the medical term for short stature? (not dwarfism)
What is the commonest skeletal dysplasia?
List the main clinical features of achondroplasia
Disproprotionately short limbs
Connective tissue disorders usually affect type 1 collagen synthesis. Is bone or soft tissue usually affected?
How does Marfan's syndrome arise?
Autosomal dominant disease due to mutation of fibrillin gene
List clinical features of Marfan's syndrome
High arched palate
What is the defect in Ehlers-Danlos syndrome?
Abnormal collagen and elastin formation
List clinical features of Ehlers-Danlos syndrome
Which pattern of inheritance do muscular dystrophies usually follow?
X-linked recessive (only affect boys)
How does Duchenne muscular dystrophy (DMD) arise?
Defect in dystrophin gene (involved in Ca transport)
List the main features of Duchenne muscular dystrophy
Progressive muscle weakness
Difficulty standing (Gower's sign)
Eventually unable to walk
People with DMD are prone to dying in their early 20's - why?
Progressive cardiac and respiratory failure
How is diagnosis of DMD confirmed?
Raised creatinine phosphokinase
Abnormal muscle biopsy
At what age does cerebral palsy usually occur?
2-3yrs of age