Congenital and Neuromuscular Conditions Flashcards
What is osteogenesis imperfecta?
Brittle bone disease - defect in the synthesis or organisation of type I collagen
Give some clinical features of osteogenesis imperfecta
Blue sclera
Fragility fractures
Hearing loss
What is skeletal dysplasia?
Genetic disorder causing short stature (dwarfism)
Achondroplasia is the commonest skeletal dysplasia. True/false?
True
What embryological structure are all connective tissues formed from?
Mesoderm
Name two connective tissue disorders
Marfan’s syndrome
Ehlers-Danlos syndrome
Marfan’s results from a mutation of the filaggrin gene. True/false?
False - fibrillin gene
Fibrillin is required in the making of what protein?
Elastin
Give some clinical features of Marfan’s
Tall
Long limbs
Hypermobile
Long fingers
What are some non MSK features of Marfan’s?
High arched palate
Aortic aneurysm
Cardiac valve incompetence
What causes Ehlers-Danlos syndrome?
A defect in a gene involved in collagen and elastin formation
Give some clinical features of Ehlers-Danlos syndrome
Joint hypermobility
Dislocations
Atrophic scars
Ease of bruising
What is the mode of inheritance for Duchenne muscular dystrophy?
X-linked recessive
What causes Duchenne muscular dystrophy?
Defect in dystrophin calcium transport gene
Give some clinical indications of Duchenne muscular dystrophy
Gowers sign
Raised creatinine phosphokinase
Duchenne muscular dystrophy is curable. True/false?
False - people die in early 20s
What is the medical term for clubfoot?
Talipes equinovarus
What occurs in clubfoot?
Abnormally aligned talus, calcaneus and navicular
What are some risk factors of clubfoot?
FHx
Breech birth
Low amniotic fluid volume
How is clubfoot treated?
Ponseti technique
What is syndactyly?
Failure of digit separation
How is syndactyly treated?
Surgery
What is fibular hemimelia?
Partial or complete absence of the fibula
What causes obstetric brachial plexus injury?
Shoulder of baby catching on pubic bone during birth
What nerve roots are affected in Erb’s palsy?
C5 and C6
What classic posture is seen in Erb’s palsy?
Waiter’s tip
What nerve roots are affected in Klumpke’s palsy?
C8 and T1
Klumpke’s palsy causes paralysis of which muscles?
Intrinsic hand muscles and/or finger/wrist flexors
Klumpke’s palsy has a better/worse prognosis than Erb’s palsy
Worse
Give some causes of cerebral palsy
Genetic abnormalities Brain malformation Hypoxia Intrauterine infection Meningitis
What is the commonest type of cerebral palsy?
Spastic
What is spina bifida?
Failure of fusion of the posterior vertebral atch
The mild form of spina bifida is spina bifida cystica/occulta and the severe form is spina bifida cystica/occulta
Mild - occulta
Severe - cystica
Spina bifida occulta commonly presents with what?
Birth mark on skin
What are some symptoms of spina bifida?
Pes cavus
Toe clawing
Bladder/bowel problems
In spina bifida occulta there is motor and sensory deficit above/below the level of lesion
Below
