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Flashcards in CORTEXT: Paeds Deck (119):
1

what is the colloquial name for osteogenesis imperfecta?

brittle bone disease

2

What is osteogenesis imperfecta?

defect of the maturation and organisation of type 1 collagen- most of hte organic composition of bone

3

What is the type of genetic mutation that generally causes osteogenesis imperfect?

autosomal dominant

4

How does osteogenesiss imperfecta present?

mulitple fragility fractures of childhood, short stature with multiple deformities, blue sclera and loss of hearing

5

What is significant by osteogenesis imperfecta caused by an autosomal recessive defect?

either fatal in the peri-natal period or associated with spinal deformity

6

What do bones in osteogensis imperfecta tend to be like?

thin (gracile) with thin cortices and osteopenic

7

What is skeletal dysplasia?

short stature (dwarfism is no longer used) caused by abnormal development of bone and connective tissue

8

What does achondroplasia result in?

disproportionately short limbs with a prominent forehead and widened nose. joints are lax and mental development is normal

9

What type of collagen is found in bone, tendon and ligaments?

type 1

10

what is marfans syndrom?

a mutation in the fibrillin gene resulting in tall stature with disproportionately long limbs and ligamentous laxity

11

What are hte associated features with marfans syndrome?

high arched palate, scoliosis, flattening of the chest- pectus excavatum, eye problems, aortic aneurym and cardiac valve incompetence

12

What are the clinical features of Ehlers-Danlos syndrome?

profound joint hypermobility, vascular fragility with ease of bruising, joint instability, and scoliosis.

13

What are the MSK features of Down syndrome?

short stature, joint laxity with possible recurrent dislocation and atlanto-axial instability

14

What is the normal genetic type for muscular dystrophies?

X-linked

15

What causes muscle weakness in duchenne muscular dystrophy?

a defect in the dystrophin gene involved in calcium transport

16

What causes death in boys with DMD?

progressive cardiac and respiratory failure

17

How is duchennes diagnosed?

raised serum creatinine phosphokinase and abnormalities on muscle biopsy

18

What is Beckers muscular dystrophy?

similar to DMD but milder and affected boys are able to walk into their teens and survive into their 30s and 40s (compared with early 20s with DMD)

19

What are the signs of an upper motor neuron lesion?

weakness, spasticity, hyperreflexia and an extensor plantar response

20

What are the signs of a LMN lesion?

weakness, reduced tone and hypo- or areflexia

21

What are the causes of cerebral palsy?

genetic problems; brain malformation; intrauterine infection in early pregnancy; prematurity; intra-cranial haemorrhage; hypoxia during birth and meningitis

22

What are the MSK problems that can develop with CP?

joint contractures, scoliosis and hip dislocation

23

What are hte non-surgical treatments for cP?

PT; splintage; baclofen and botox- to reduce spasticity

24

What is spina bifida?

a congential disorder where the two halves of the posterior vertberal arch fail to fuse, probably in the first 6 weeks of gestation

25

What is the mildest form of spina bifida?

spina bifida occulta

26

What are the 2 types of spina bifida cystica?

meningocele or myelomeningocele

27

What is poliomyelitis?

a viral infection which affects motor anterior horn cells in the spinal cord or brainstem resulting a lower motor neurone deficit

28

How does the polio virus enter the body?

via the GI tract

29

What are the early signs of polio?

a flu-like illness and a variable degree of paralysis usually affecting a group of muscles of one limb within 2-3days

30

Is sensation affected with polio?

no

31

What is syndactyly?

two digits are fused due to failure of separation fo the skin./soft tissues or phalanges of adjacent digits either partially or along the entire length of the digits

32

What is polydactyly?

an extra digit is formed

33

What is fibular hemimelia?

where there is partial or complete absence of the fibular

34

What does fibular hemimelia lead to?

a shortened limb, bowing of the tibia and ankle deformity

35

What is tarsal coalition?

a fusion between two of the tarsal bones of hte foot

36

What can tarsal coalition cause?

painful flat feet in later childhood

37

Who do obstetric brachial plexus palsy commonly arise in?

large babies; twin deliveries and shoulder dystocia

38

What is the commonest type of obs brachial plexus palsy?

Erbs palsy

39

What happens in Erb's palsy?

injury to the upper (C5 and 6) nerve roots resulting loss of motor innervation of the deltoid; supraspinatus; infraspinatus; biceps and brachialis muscles

40

Why is there internal rotation of the humerus in Erb's palsy?

unopposed subscapularis action

41

What is the treatment for Erb's palsy?

PT

42

What is Klumpke's palsy?

lower brachial plexus injury (C8 and T1)

43

What causes Klumpke's palsy?

forecful adduction

44

What muscles are affected in Klumpke's palsy?

intrinsic hand muscles +/- finger and wrist flexors and possible Horners syndrom

45

Why can you get Horner's syndrome with Klumpke's palsy?

disruption of the first sympathitic ganglion from T1

46

Why ar ethe finger typically flexed with Klumpke's palsy?

due to paralysis of the interossei and lubricals which assist extension at the PIPJ

47

At what age should a child be sitting alone,crawling?

6-9months

48

What age should a child stand?

8-12 months

49

What age should a child be walking?

14-17months

50

What age should a child be able to jump?

24 months

51

what age should a child be able to manage stairs independently?

3yo

52

By what age should a child have head control?

2 months

53

What age should a child be speaking a few words?

9-12months

54

What is the alignment of the legs of children at birth?

varus knees

55

What is the alignment of children at age 3?

valgus

56

What is the normal alignment of the legs by 7-9 (wich continues into adulthood)?

6 degrees of valgus

57

What is considered to be pathological varus and valgus

+/- 6 degreees from mean value for the age

58

What is Blount's disease?

a growth disorder of the medial proximal tibial physis that causes marked and persisting varus deformity

59

What are other causes of varus?

rickets; tumour; traumatic physeal injury and skeletal dysplasi

60

What are persistent bow legs at risk of?

early onset medial compartment OA

61

What are the causes of genu valgum?

rickets; tumours; trauma and neurofibromatosis

62

How can genu valgum and varum be fixed surgically?

osteotomy or growth plate manipulation surgery

63

What is in-toeing?

when feet point towards the midline when walking or standing

64

What are causes of in0toeing?

femoral neck anteversion; internal tibial torsion; forefoot adduction

65

What test can determine if flat feet are flexible?

Jack test- when the medial arch orms with dorsiflecion of the great toe

66

What may cause flexible flat footedness?

ligamentous laxity; idiopathic or familial

67

What does rigid flat footedness indicate?

there ris underlying bony abnormality

68

What bony abnormality can cause rigid flat footedness?

tarsal coalition

69

What is tarsal coalition?

where the bones of the hindfoot have an abnormal bony or cartilaginous connection

70

What is DDH?

dislocation or subluxation of the femoral head during hte perinatal period which affects the subsequent development of the hip joint

71

What are the risk factors for DDH?

positive family histroy of DDH; breech presentation; first born babies; Down's syndrome and presence of other congenital disorders

72

What are the clinical signs of DDH?

shortening, asymmetric groin/thigh skin creases and click or clunk on the Ortolani or Barlow manoeuvries

73

What is the investigation done for DDH?

US

74

Why can xrays not be used for early diagnosis of DDH?

the femoral head epiphysis is unossified until around 4-6 months

75

What harness is used to treat DDH?

Pavlik harness

76

What is the purpose of the Pavlik harness?

keeps the hips in comfortable flexion and abduction and mainting reduction and reducing the chance of AVN

77

What are the consequences of a late diagnosis at 18 months?

open redduction is much more likely and the acetabluum is likely to eb very shallow- has much poorer prognosis

78

What is transient synovitis?

self-limiting inflammation of the synovium of a joint, most commonly the hip

79

What commonly precedes transient synovitis?

an upper respiratory tract infection- usually viral

80

What is the presentation of transient synovitis?

limp or reluctance to weight bear on the affected side, range of motion may be restricted- not as much pain or loss of motion as septic arthritis, low grade fever but is not systemically unwell or septic

81

What is the management for transiet synovitis?

short course of NSAIDs and rest- usually resolves within a few weeks

82

What is Perthes?

idiopathic osteochondritis of the gemoral head

83

Who gets Perthes?

active kids between 4 and 9 and boy 5:1

84

What is the pathophysiology of Perhtes?

the femoral head tranisently loses its blood supply resulting innecrosis with subsequent abnormal growth, the femoral head may collapse of tracture and subsequent remodelling occurs

85

What is the prognosis of perthes?

an incongruent joint will lead to early onset arthritis and may require hip replacement in adolescent or early adulthood

86

What is the main determinant in prognosis?

age of onset- older children fare worse- changes the shape of femoral head and congruence of hte joint and the amoutn of collapse

87

What may be underlying bilateral Perthes?

skeletal dysplasia or thrombophilia

88

What are the clinical signs of Perhtes?

pina and a limp; los of internal rotation follwed by loss of abduction and a positive trendelenberg

89

What is the treatment for Perthes?

xray observation and avoidance of physical activity

90

Who gets SUFE?

overweight pre-pubescent adolescent boys

91

What may predispose to SUFE?

hypothyroidsim or renal disease

92

What causes SUFE?

the physis is not strong enough to support body weight ad the femoral epiphysis slips due to the strain- slips inferiorly in realtion to the femoral neck

93

What are the clinical signs of SUFE?

pain and a limp; pain may be flet in the groin or knee. loss of iternal rotation of the hip

94

What is the treatment for SUFE?

urgent surgery to pin the femoral head to prevent further slippage; some may require hip replacement in adolscene of early adulthood; osteotomy

95

Why do you need to be careful when attempting gentle manipulation?

risks AVN

96

What is jumpers knee?

patellar tendonitis

97

What is apophysitis?

inflammation of a growing tubercle where a tendon attaches

98

What is Osgood-Schlatter's disease?

inflammation of the tibial tubercle apophysis

99

What is Sinding-Larden-Johansson disease?

inflammation of hte inferior pole of hte patella

100

What may cause anterior adolescent knee pain?

muscle imbalance; ligamentous laxity and subtle skeletal predisposition (genu valgum, wide hips, femoral neck anteversion); softening of the hyaline cartilage of the patella

101

What is chondromalacia patellae?

softening of the hyaline cartilage of the patella

102

What is osteochondritis dissecans?

an osteochondritis where a fragment of hyaline cartilage with varaible amount of bone fragments breaks off the surface of hte joint

103

What is the presentation of osteochondritis dissecans?

poorly localised pain, effusion and locking

104

What shape is an abnormally shaped discoid meniscus?

circular rather than C-shaped

105

What symptoms does an abdnoramlly shaped discoid meniscus cause?

can be a source of pain and a "popping" sensation

106

What causes talipes equinovarus?

abnormal alignment of the joints between the talus, calcaneus and navicular hwhich results in contracrues of the soft tissues resulting in deformity

107

What is ankle equinus?

plantarflexion

108

What are the deformities in talipes equinovarus?

plantarflexion; supination fo the forefoot and varus alignment of the forefoot

109

What are hte risk factors for talipes equinovarus?

low amniotic fluid content; breech presentaion; familt histroy; boys 2:1

110

What are the treatments for talipes equinovarus?

early splintage and surgery for those resistant to splinatge or with late diagnosis

111

What is the splintage technique for clubfoot?

ponseti technique

112

What tenotomy do 80% of children with clubfoot require to maintain full correction?

of the Achilles tendon

113

Is idiopathic scoliosis more common in males or females?

females

114

What is the surgery for scoliosis?

vertebral fusions and long rods connectin the posterior elements of hte spine

115

What is spondylolisthesis?

slippage of one vertebra over another- often happens after spondylolysis

116

What is the presentation of spondylolisthesis?

low back apin; radiculopathy- if slippage is severe; "flat back" due to muscles spasm and a characteristic waddling gait

117

What have been implicated in the causes of spondylolisthesis?

increased body weight and increased sporting activity in adolescents

118

What is spondylolysis?

defect or stress fracture in the pars articularis of the vertebral arch

119

What is spondylosis?

OA of the vertebra