Congenital Diseases Flashcards
What is Osteogenesis Imperfecta also known as?
What defect is seen and what is the classic clinical sign seen in infants?
A.k.a. Brittle Bone Disease
Defect in Type I collagen due to mutations in COL1A and COL1B
Classic sign is blue sclera in babies
How does Osteogenesis Imperfecta present and what is it sometimes misdiagnosed as?
Characterised by repeated fragility fractures in childhood, often mistaken as NAI
Short stature with multiple deformities
Hearing loss
How are fractures treated in Osteogenesis Imperfecta?
Treated with splintage, traction or surgical stabilisation - fractures tend to heal with abundant but poor-quality callus
If causing progressive deformities, may require a Sofield procedure) - multiple osteotomies and intramedullary stabilisation
What is the other name for skeletal dysplasia?
How many types of SD are there? Which is the most common?
A.k.a. dwarfism
over 300 different types, achondroplasia being the most common
What % of achondroplasia are due to sporadic mutation?
80%
What is this clinical sign?
What condition is it especially associated with?
Haemangioma - collection of abnormal blood vessels under the skin
Associated with a variety of skeletal dysplasias
What is the medical condition in which patients describe themselves as “double jointed”?
What are these people more prone to?
Generalised (Familial) Joint Laxity
Dominantly inherited joint hypermobility
People with GJL are more prone to soft tissue injuries and dislocations
How is Marfan’s Syndrome inherited? What gene is affected?
Autosomal dominant
Defect in the fibrillin gene
What congenital connective tissue disorder is characterised by hypermobility, ligamentous laxity, vascular fragility, joint instability and scoliosis - all due to abnormal elastin and collagen formation?
What scoring system is used to determine if someone has this condition?
Ehlers-Danlos Syndrome
Beighton scoring system
What condition presents with Gower’s Sign?
How is this condtion inherited?
Duchenne Muscular Dystrophy - defect in the dystrophin gene affects calcium transport, resulting in muscle weakness
X-linked recessive
How is Duchenne Muscular Dystrophy diagnosis confirmed?
Patient will have a raised creatinine phosphokinase and abnormalities on muscle biopsy
What condition is similar to Duchenne Muscular Dystrophy but sees patients living to be a little older?
Becker’s Muscular Dystrophy - patients live to 30s-40s
What is cerebral palsy?
What can cause it?
Neuromuscular disorder presenting in 2nd or 3rd year of life due to damage to the immature brain before, during or after birth
Possible causes
- genetics
- brain malformation
- intrauterine infection
- prematurity
- intracranial haemorrhage
- hypoxia during birth
- meningitis
What are some of the types of cerebral palsy?
Spastic CP (most common type)
- hemiplegia
- diplegia
- quardaplegia
Dyskinetic CP
- athetoid
- dystonic
Ataxic CP
Spastic cerebral palsies are (pyramidal/extra-pyramidal)
Pyramidal
