Congenital Disorders Flashcards
What is the pathogenesis of osteogenesis imperfecta?
Defect of organisation/maturation of type I collagen
Is osteogenesis imperfecta autosomal dominant or autosomal recessive?
Autosomal dominant
Give some signs and symptoms of osteogenesis imperfecta
Multiple fragility fractures
Blue sclerae
Hearing loss
Gracile bones on x-ray
How is osteogenesis imperfecta treated?
Splintage
Traction
Surgical stabilisation
What is the pathogenesis of achondroplasia?
Genetic error causes abnormal bone/connective tissue development
The majority of achondroplasia is sporadic. True/false?
True
What are the signs and symptoms of achondroplasia?
Disproportionately short limbs
Prominent forehead
Wide nose
Joint laxity
How is achondroplasia treated?
Supportively - prevent spinal cord compression/joint instability
Connective tissue disorders are a genetic disorder of what type collagen?
Type I
What is the pathogenesis of Marfan’s syndrome?
Mutation of the fibrillin gene causes excess elastin
Give some signs and symptoms of Marfan’s syndrome
Tall stature Disproportionately long limbs Ligamentous laxity High arched palate Scoliosis Heart defects
What is the pathogenesis of Ehlers-Danlos syndrome?
Abnormal collagen and elastin formation
Is Ehlers-Danlos syndrome autosomal dominant or autosomal recessive?
Autosomal dominant
What are the signs and symptoms of Ehlers-Danlos syndrome?
Joint hypermobility and dislocations
Vascular fragility
Scoliosis
Muscular dystrophies have what pattern of inheritance?
X-linked recessive
