orthopaedics: paediatric congenital, neuromuscular and developmental disorders Flashcards
what is affected in osteogenesis imperfecta and what is it also know as
type 1 collagen doesn’t mature properly - brittle bone disease
what type of inheritance is osteogenesis imperfecta
autosomal inheritance - dominant or recessive
what are the symptoms of osteogenesis imperfecta
multiple fractures, short stature (dwarfism), deformities, blue sclerae, loss of hearing (neonatal death)
what management can be done for osteogenesis imperfecta
splintage and surgical stabilisation of trauma
what is osteogenesis imperfecta often mistaken for
NAI
what is skeletal dysplasia and what is the most common type
short stature (dwarfism), achondroplasia
what types of dwarfism are there in terms of limbs:trunk
proportionate and disproportionate (limbs and spine same/ different length)
what type of inheritance is achondroplasia
autosomal dominant
what are the symptoms of achondroplasia
disproportionate short limbs, large forehead, wide nose, normal joints and mental capacity
what can more serious cases of skeletal dysplasia present with
learning difficulties, spine and limb deformities, internal organ failure, tumours, premature death
what are connective tissue disorders
genetic disorders of collagen synthesis, causes joint hypermobility
what are people with generalised joint laxity likely to experience
‘double jointed’, soft tissue injuries eg sprains and dislocations - familial dominant inheritance
what is Marfan’s syndrome
autosomal dominant mutation of fibrillin gene affecting connective tissue
what are the symptoms of Marfan’s (8)
tall with disproportionate long limbs, high palate, scoliosis, pectus excavatum (pigeon test), eye dislocations, spontaneous pneumothorax, cardiac valve, aortic aneurysms
what leads to premature death in Marfan’s
cardiac abnormalities
how do you manage Marfan’s
manage manifestations, manage joint problems
what is abnormal in Ehlers-Danlos syndrome
heterogeneous condition of collagen with abnormal elastin and collagen
what are the symptoms of Ehlers-Danlos
joint hyper-mobility, skin fragility, scoliosis
what type of inheritance are muscular dystrophies and who gets it
X linked recessive - just affecting boys
what protein is absent in Duchenne’s muscular dystrophy and how is this damaging
dystrophin gene, calcium enters cell and causes cell death –> no protein formed
what are the symptoms of Duchenne’s
muscle weakness noticed when standing, waddling gait, head lag, Gower’s manoeuvre positive
what usually kills Duchenne people
cardiac and resp (diaphragm) failure
how is Duchenne and muscular dystrophies diagnosed
raised creatinine phosphokinase (CK), muscle biopsy (dystrophin)
what bones are affected in talipes equinovarus (clubfoot) and who gets it
abnormal alignment of joints between calcaneus, talus and navicular
what are the symptoms of talipes equinovarus
ankle equinus (tippy toes), supination of forefoot, varus alignment of forefoot (sole rolls medially)
what increases risk of clubfoot
FH, breech position, oligohydramnios (low amniotic fluid), males
what management is there fro clubfoot
early diagnosis, early splintage (ponseti), later diagnosis needs lots of extensive surgery
what is ponseti technique
splintage straight after birth, cast changes every 5-6 weeks, tenotomy of achilles for full corection
what is cerebral palsy and what causes it
neuromuscular disorder from an insult to the brain before after or during birth
what can cause/ contribute to cerebral palsy
genetics, brain malformation, intrauterine infection, premature, hypoxia
what are the 4 types of cerebral palsy
spastic (most common), athetoid, ataxic, mixed
what are the symptoms of cerebral palsy
mild: limited to one limb, severe: total body and learning difficulties.
muscle weakness and spasticity, developmental mile stones affected
what is obstetric brachial plexus palsy
damage to brachial plexus in delivery
how common is brachial plexus
2/1000
what babies are at risk for brachial plexus palsy
large babies, twins, shoulder dystocia
what is the most common type of brachial plexus palsy and where is the nerve damage
Erb’s palsy - injury to upper nerve roots C5 and C6
what muscles are affected in Erb’s palsy
loss of motor innervation to deltoid, supraspinatus, bicerps and brachialis
what posture is often seen in erb’s palsy
waiter’s tip: hand bent forward, bent elbow
how do you manage erb’s palsy
physio or surgery
what is Klumpke’s palsy
rarer lower brachial injury
what causes Klumpke’s palsy and what are the symptoms
forceful adduction which results in paralysis of intrinsic hand muscles
