orthopaedics: paediatric congenital, neuromuscular and developmental disorders

Question 1

what is affected in osteogenesis imperfecta and what is it also know as

Answer 1

type 1 collagen doesn’t mature properly - brittle bone disease

Question 2

what type of inheritance is osteogenesis imperfecta

Answer 2

autosomal inheritance - dominant or recessive

Question 3

what are the symptoms of osteogenesis imperfecta

Answer 3

multiple fractures, short stature (dwarfism), deformities, blue sclerae, loss of hearing (neonatal death)

Question 4

what management can be done for osteogenesis imperfecta

Answer 4

splintage and surgical stabilisation of trauma

Question 5

what is osteogenesis imperfecta often mistaken for

Answer 5

NAI

Question 6

what is skeletal dysplasia and what is the most common type

Answer 6

short stature (dwarfism), achondroplasia

Question 7

what types of dwarfism are there in terms of limbs:trunk

Answer 7

proportionate and disproportionate (limbs and spine same/ different length)

Question 8

what type of inheritance is achondroplasia

Answer 8

autosomal dominant

Question 9

what are the symptoms of achondroplasia

Answer 9

disproportionate short limbs, large forehead, wide nose, normal joints and mental capacity

Question 10

what can more serious cases of skeletal dysplasia present with

Answer 10

learning difficulties, spine and limb deformities, internal organ failure, tumours, premature death

Question 11

what are connective tissue disorders

Answer 11

genetic disorders of collagen synthesis, causes joint hypermobility

Question 12

what are people with generalised joint laxity likely to experience

Answer 12

‘double jointed’, soft tissue injuries eg sprains and dislocations - familial dominant inheritance

Question 13

what is Marfan’s syndrome

Answer 13

autosomal dominant mutation of fibrillin gene affecting connective tissue

Question 14

what are the symptoms of Marfan’s (8)

Answer 14

tall with disproportionate long limbs, high palate, scoliosis, pectus excavatum (pigeon test), eye dislocations, spontaneous pneumothorax, cardiac valve, aortic aneurysms

Question 15

what leads to premature death in Marfan’s

Answer 15

cardiac abnormalities

Question 16

how do you manage Marfan’s

Answer 16

manage manifestations, manage joint problems

Question 17

what is abnormal in Ehlers-Danlos syndrome

Answer 17

heterogeneous condition of collagen with abnormal elastin and collagen

Question 18

what are the symptoms of Ehlers-Danlos

Answer 18

joint hyper-mobility, skin fragility, scoliosis

Question 19

what type of inheritance are muscular dystrophies and who gets it

Answer 19

X linked recessive - just affecting boys

Question 20

what protein is absent in Duchenne’s muscular dystrophy and how is this damaging

Answer 20

dystrophin gene, calcium enters cell and causes cell death –> no protein formed

Question 21

what are the symptoms of Duchenne’s

Answer 21

muscle weakness noticed when standing, waddling gait, head lag, Gower’s manoeuvre positive

Question 22

what usually kills Duchenne people

Answer 22

cardiac and resp (diaphragm) failure

Question 23

how is Duchenne and muscular dystrophies diagnosed

Answer 23

raised creatinine phosphokinase (CK), muscle biopsy (dystrophin)

Question 24

what bones are affected in talipes equinovarus (clubfoot) and who gets it

Answer 24

abnormal alignment of joints between calcaneus, talus and navicular

Question 25

what are the symptoms of talipes equinovarus

Answer 25

ankle equinus (tippy toes), supination of forefoot, varus alignment of forefoot (sole rolls medially)

Question 26

what increases risk of clubfoot

Answer 26

FH, breech position, oligohydramnios (low amniotic fluid), males

Question 27

what management is there fro clubfoot

Answer 27

early diagnosis, early splintage (ponseti), later diagnosis needs lots of extensive surgery

Question 28

what is ponseti technique

Answer 28

splintage straight after birth, cast changes every 5-6 weeks, tenotomy of achilles for full corection

Question 29

what is cerebral palsy and what causes it

Answer 29

neuromuscular disorder from an insult to the brain before after or during birth

Question 30

what can cause/ contribute to cerebral palsy

Answer 30

genetics, brain malformation, intrauterine infection, premature, hypoxia

Question 31

what are the 4 types of cerebral palsy

Answer 31

spastic (most common), athetoid, ataxic, mixed

Question 32

what are the symptoms of cerebral palsy

Answer 32

mild: limited to one limb, severe: total body and learning difficulties.
muscle weakness and spasticity, developmental mile stones affected

Question 33

what is obstetric brachial plexus palsy

Answer 33

damage to brachial plexus in delivery

Question 34

how common is brachial plexus

Answer 34

2/1000

Question 35

what babies are at risk for brachial plexus palsy

Answer 35

large babies, twins, shoulder dystocia

Question 36

what is the most common type of brachial plexus palsy and where is the nerve damage

Answer 36

Erb’s palsy - injury to upper nerve roots C5 and C6

Question 37

what muscles are affected in Erb’s palsy

Answer 37

loss of motor innervation to deltoid, supraspinatus, bicerps and brachialis

Question 38

what posture is often seen in erb’s palsy

Answer 38

waiter’s tip: hand bent forward, bent elbow

Question 39

how do you manage erb’s palsy

Answer 39

physio or surgery

Question 40

what is Klumpke’s palsy

Answer 40

rarer lower brachial injury

Question 41

what causes Klumpke’s palsy and what are the symptoms

Answer 41

forceful adduction which results in paralysis of intrinsic hand muscles