pediatric Conditions

Question 1

how is osetogenesis imperfecta inherited?

Answer 1

autosomal dominant mostly and there is a defect in maturation and organisation of type 1 collagen

Question 2

what are the features of osteogenesis imperfecta?

Answer 2

multiple fragility fractures of childhood (mistaken for NAI), short stature with multiple deformities, blue sclerae and loss of hearing

Question 3

what is characteristic of bones of those with osteogenesis imperfecta?

Answer 3

thin cortices and osteopenic

Question 4

how do fractures heal in those with osteogenesis imperfecta?

Answer 4

abundant but poor quality callus and are treated with splintage, traction or surgical stabilisation

Question 5

what is skeletal dysplasia?

Answer 5

a genetic error (hereditary or sporadic mutation) that causes abnormal development of bone and connective tissue

Question 6

what are the two types of skeletal dysplasia?

Answer 6

proportionate - where the spine and limbs are proportionate

disproportionate - where the spine is either longer or shorter than limbs

Question 7

what is the commonest form of skeletal dysplasia?

Answer 7

achondroplasia

Question 8

how is achondroplasia inherited?

Answer 8

autosomal dominant

80% sporadic

Question 9

what are the features of achondroplasia?

Answer 9

disproportionately short limbs, prominent forehead and widened nose
joints are lax but mental development is normal

Question 10

what are connective tissue disorders?

Answer 10

due to genetic disorders of collagen synthesis (mainly type 1- bone, tendon and ligaments)

Question 11

what is generalised familial laxity?

Answer 11

double jointed
voluntary dislocation
more prone to soft tissue injury

Question 12

how is marfan’s syndrome inherited?

Answer 12

autosomal dominant/ sporadic mutation of the fibrillin gene

Question 13

what are the features of Marfan’s syndrome?

Answer 13

long limbs, ligamentous laxity, high arched palate, scoliosis, flattening of the chest (pectus excavatum), eye problems ( lens dislocation, retinal detachment, glaucoma), aortic aneurysm and cardiac valve incompetence

Question 14

what causes premature death in those with marfan’s syndrome?

Answer 14

due to cardiac abnormalities

Question 15

what is the treatment for marfans’ syndrome?

Answer 15

rarely require orthopaedic surgery as usually disappointing results as biological defect cannot be treated

Question 16

how is Ehler’s-Danlos syndrome inherited?

Answer 16

heterogenous

autosomal dominant with abnormal elastin and collagen formation

Question 17

what are the features of Ehler’s-Danlos syndrome?

Answer 17

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

Question 18

what si the treatment for Ehler’s-Danlos syndrome?

Answer 18

Bony surgery may be required for dislocating joints however bleeding can be a problem and skin healing can be poor with stretched scars or wound dehiscence common.

Question 19

what are the MSK minfestations of down syndrome?

Answer 19

trisomy 21 - short stature and joint laxity with possible recurrent dislocation (eg. patella) - requires stabilisation

Question 20

what are muscular dystrophies?

Answer 20

they are rare x-linked recessive hereditary disorders therefore affect boys only

Question 21

what is duchenne muscular dystrophy?

Answer 21

a defect in the dystrophin gene involved in calcium transport results in muscle weakness follow by 10 and by the age of 20 cannot walk

Question 22

how is duchenne muscular dystrophy diagnosed?

Answer 22

increased serum creatinine phosphokinase and abnormalities on muscle biopsy

Question 23

what is classic gait of someone with duchenne muscular dystrophy?

Answer 23

gower’s sign

Question 24

what is the treatment of duchenne muscular dystrophy?

Answer 24

Physiotherapy, splintage and deformity correction may prolong mobility. Severe scoliosis may be corrected by spinal surgery.

Question 25

what are the types of neuromuscular disorders?

Answer 25

cerebral palsy spina bifida polio

Question 26

what is cerebral palsy?

Answer 26

neuromuscular disorder, onset before 2-3 years of age due to an insult to the immature brain before, during or after birth

Question 27

what are the causes of cerebral palsy?

Answer 27

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

Question 28

what causes the difference in severity in cerebral palsy?

Answer 28

depends on the area of the brain that is affected ranging from mild symptoms and signs limited to one limb or total body involvement with profound learning difficulties

Question 29

what type of knees do children at brith usually have?

Answer 29

varus knees (bow legs) which become neutrally aligned at around 14 months, progressing to 10-15 degree values (knock knees) at age 3 and then gradually regress to the physiologic values of 6 degrees by around the age 7-9

Question 30

what is in-toeing?

Answer 30

refers toa. child who when walking or standing will have feet that point toward the midline the abnormality is often exaggerated when running and children are felt by their patents to be clumsy and wear through shoes at an alarming rate

Question 31

what is femoral neck ante version?

Answer 31

as part of normal anatomy the femoral neck is slightly anteverted (pointing forwards). excess femoral neck ante version can give the appearance of in-toeing (as well as knock knees), however the degree of apparent in-toeing is not a magnitude which would warrant surgical intervention

Question 32

at birth are all feet flat?

Answer 32

yes, as we begin to walk and the muscles develop the arch will also develop. Some children continue to have flat feet which persist into adulthood without any functional problem

Question 33

what is mobile/flexible flat feet?

Answer 33

those where the flattened medial arch forms with dorsiflexion of the great toe (jack test) flexible flat footedness may be related to ligamentous laxity, may be familial or may be idiopathic normal variant in children - medial arch support orthoses are not required

Question 34

what is dynamic flat footedness?

Answer 34

present on weight bearing only

Question 35

what is rigid type of flat footedness?

Answer 35

the arch remains flat regardless of load or great toe dorsiflexion this implies there is an underlying bony abnormality (tarsal coalition where the bones of the hind foot have an abnormal bony or cartilaginous connection) which may require surgery it may also represent an underlying inflammatory disorder or a neurological disorder

Question 36

what are curly toes?

Answer 36

minor overlapping of the toes and curling of toes is common with the fifth toe is most frequently affected. again most will correct without intervention but they can occasionally cause discomfort in shoes and persistent cases in adolescence may require surgical correction