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► Med - Anatomy & Physiology > Skeletal > Flashcards

Skeletal Flashcards

1
Q

What disease in children is a defect of the maturation and organisation of type I collagen?

A

Osteogenesis imperfecta - autosomal dominant

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2
Q

What condition presents in children with multiple fragility fractures, short stature, blue sclerae and loss of hearing?

A

Osteogenesis imperfecta

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3
Q

What skeletal dysplasia is the commonest form, is autosomal dominant and results in disproportionately short limbs with a prominent forehead and widened nose?

A

Achondroplasia - joints are lax and mental development is normal

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4
Q

What condition do some connective tissue diseases result in?

A

Hypermobility

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5
Q

What are people with geneeralised familial joint laxity (dominant inheritance) prone to?

A

Recurrent dislocations of joints edpecially shoulder and patella

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6
Q

What gene is affected in Marfan’s?

A

Autosomal dominant sporadic mutation of fibrillin gene

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7
Q

Name three features of Marfan’s?

A

Tall stature, disproportionatley long limbs and ligamentous laxity

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8
Q

What condition has these associated features: high arched palate, scoiliosis, flattening of chest (pectus excavatum), eye problems (lens dislocation, glaucoma and retinal detachment), aortic aneurysms and cardiac valve incompetence (mitral valve prolapse and regurgitation)?

A

Marfans syndrome

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9
Q

What condition involves abnormal collagen and elastin formation, it is autosomal dominant and more than 10 types have been described?

A

Ehlers-Danlos sybdrome

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10
Q

What condition has clinical features of profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis?

A

Ehlers-Danlos syndrome

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11
Q

What MSK manifestations can occur with Downs syndrome?

A

Short stature, joint laxity, recurrent dislocations and atlanto-axial instability in the c spine

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12
Q

What inheritence do muscular dystrophies tend to have?

A

X-linked recessive - only affecting boys

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13
Q

What gene is affected in DMD?

A

Dystrophin gene involved in calcium transport resulting in muscle weakness

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14
Q

What clinical sign is suggestive of DMD?

A

Gower’s sign

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15
Q

How is diagnosis of DMD confirmed?

A

Raised serum creatinine phosphokinase and abnormalities on muscle biopsy

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16
Q

When is the onset of cerebral palsy?

A

2-3 years

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17
Q

What are these all causes for: brain malformation, intrauterine infection in early pregnancy, prematurity, intracranial haemorrhage, hypoxia during birth and meningitis?

A

Cerebral palsy

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18
Q

What is the commonest expression of CP?

A

Spastic CP 80% of cases - with injury to motor complex, upper motor neurons or corticospinal tract

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19
Q

What does ataxic cerebral palsy affect?

A

Cerebellum - reduces coordination and balance

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20
Q

What does athetoid cerebral palsy affect?

A

eXTRAPYRIMIDAL MOTOR SYSTEM, pyrimidal tract and basal ganglia which results in uncontrolled writhing motion, sudden changes in tone and difficulties controlling speech

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21
Q

What medication can be given in cerebral palsy to reduce spacisity?

A

Baclofen and Botox

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22
Q

What is spina bifida?

A

Congenital disorder where the two halves of the posterior vertebral arch fail to fuse, probably in first 6 weeks of gestation

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23
Q

In the mildest form of spina bifida - spina bifida occulta what two foot manifestations can be causd?

A

High arched foot (pes cavus) and clawing of the toes

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24
Q

In spina bifida - what can be a sign of the underlying defect?

A

Tuft of hair

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25
Q

Name a condition associated with spina bifida cystica?

A

Hydrocephalus

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26
Q

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

A

Polio

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27
Q

How does polio enter the body?

A

Via the GI tract with a flue-like illness

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28
Q

What is the commonest congenital malformation of the limbs?

A

Syndactyly - where two digits are fused due to failure of seperation of the skin/soft tissues or phalanges of adjacent digits either partially or along the entire length of digits

29
Q

What is fibular hemimelia?

A

One of the most common limb deficiencies which involves partial or complete absence of the fibula often with absence of the lateral foot rays leading to a shortened limb, bowing of the tibia and ankle deformity

30
Q

What is the commonest type of brachial plexus injury?

A

Erb’s palsy - injury to the upper C5 and C6 nerve roots resulting in loss of motor innervation of the deltoid, supraspinatus, infraspinatus, biceps and brachialis muscles

31
Q

What condition presents with internal rotation of the humerus and may lead to the classic waiter’s tip posture?

A

Erbs palsy

32
Q

What is Klumpke’s palsy?

A

Lower brachial plexus injury (C8 & T1 roots) caused by forceful adduction which results in paralysis of the intrinsic hand muscles +/- finger and wrist flexors and possible Horner’s syndrome. The fingers are typically flexed (due to paralysis of the interossei and lumbricals which assist extension at the PIP joints).

33
Q

What allignment of the knees do children have at birth?

A

Varus (bow legs) which align neutrally at 14 months

34
Q

At age 3 what allignment of knees do children have?

A

Knock knees - valgus

35
Q

What might excessive genu varum be due to?

A

Growth disorder of medial proximal tibial physis known as Blounts disease

36
Q

Give three causes of intoeing in children?

A
  1. Femoral neck anteversion
  2. Internal tibial torsion
  3. Forefoot adduction
37
Q

How do you differentiate between mobile and fixed flat feet?

A

Jacks test - mobile feet (related to ligamentous laxity) are those where the flattened medial arch forms with dorsiflexion of the great toe

38
Q

What underlying bony abnormality could be present with fixed flat feet?

A

Tarsal coalition

39
Q

What condition involves dislocation or subluxation of the femoral head during the perinatal period which affects the subsequent development of the hip joint?

A

DDH - developmental dysplasia of the hip

40
Q

What gender is more commonly affected by DDH?

A

Females - 80% of cases. left hip is more common but 20% of cases are bilateral. Risk factors include breech presentation, first born babies, Downs syndrome.

41
Q

Name three clinical signs of DDH?

A
  1. Shortening
  2. Assymetric groin/thigh creases
  3. Click/Clunck on Ortolani test and Barlow manouvre
42
Q

What is Ortolani test?

A

Unstable hips with a positive Ortolani test (reducing a dislocated hip with abduction and anterior displacement)

43
Q

What is Barlows test?

A

Dislocatable hip with flexion and posterior displacement

44
Q

How should DDH be investigated?

A

With ultrasound before 4-6 months but x-ray after

45
Q

With DDH - what type of harnwess holds persistently unstable hips?

A

Pavlik

46
Q

What is the most common cause of hip pain in childhood?

A

Transient synovitis - selflimiting inflammation of synovium of joint, most commonly the hip

47
Q

What does transient synovitis commonly occur after?

A

URTI - typical age is between 2 and 10 years and boys are more commonly affected

48
Q

How does transient synovitis present?

A

With a limp or reluctance to weight bear

49
Q

How is transient synovitis treated?

A

With NSAIDS and rest

50
Q

What condition is an idiopathic osteochondritis of the femoral head which usually occurs between ages 4 and 9 and is more common in active boys of short stature/

A

Perthes disease

51
Q

What is the first clinical sign of Perthes?

A
  1. Loss of internal rotation
  2. Loss of abduction
  3. Positive Trendenburgs test
52
Q

Who does SUFE affect?

A

overweight pre-pubertal adolescent boys where the femoral head epiphyses slips inferiorly in relation to the femoral neck

53
Q

Give two conditions that may predispose to SUFE?

A

Hypothyroidism and renal disese

54
Q

Is SUFE likely to be bilateral?

A

1/3rd of cases are

55
Q

How do SUFE patients present?

A

With pain and limp. pain may be felt in groin however can sometimes present with only knee pain (obturator nerve). Predominant clinical sign is loss of internal rotation.

56
Q

How is SUFE treated?

A

Urgent surgery to pin the femoral head and prevent further slippage

57
Q

What is apophysitis and what two locations can it appear?

A

Inflammation of growing tubercle where a tendon attaches. Can occur at either end of patellar tendon due to strain - tibial tubercle is Osgood Schlatter and inferior pole of patella is Sinding-Larsen-Johanssen disease.

58
Q

What allignment of the knees can predispose to adolescent knee pain in girls?

A

Valgus and femoral neck anteversion

59
Q

What ligament is usually torn when the patella dislocates?

A

Medial patellafemoral ligament. 20% first timers go on to have second episodes and 10% have multiple.

60
Q

What is the condition where a fragment of hyaline cartilage with variable amount of bone fragments and breaks off the surface of the joint?

A

Osteochondritis dissecans

61
Q

What joint and site are the most commonly affected in osteochondritis dissecans?

A

Knee and medial femoral condyle

62
Q

How do osteochondritis dissecans patients present?

A

With poorly localiosed pain, effusion and occasional locking

63
Q

What do some children have in relation to the menisci that can be a source of pain and a popping sensation?

A

Abnormally shaped discoid meniscus (usually lateral) which is circular ratehr than c shaped

64
Q

What is talipes equinovarus?

A

Clubfoot

65
Q

What condition involves ankle equinus (plantarflexion), supination of the forefoot and varus alignmnet of the forefoot?

A

Talipes equinovarus

66
Q

What gender is more affected with talipes equinovarus?

A

Boys - breech presentation, family history and oligohydramnios is another risk factor

67
Q

What splintage technique is used for talipes equinovarus?

A

Ponseti technique

68
Q

What is spondylolisthesis?

A

Slippage of one vertebra over another and usually occurs at the L4/5 or L5/S1 level. Usually presents in adolescence after increased sporting activity.

69
Q

What do spondylolisthesis patients present with?

A

Flat back and characteristic waddling gait

► Med - Anatomy & Physiology (130 decks)

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