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Paediatrics > Genetics and syndromes > Flashcards

Genetics and syndromes Flashcards

1
Q

What is the genetic defect in Down’s syndrome?

A

trisomy 21

mostly translocation and mosaicism

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2
Q

What are the clinical features of Down syndrome that can be seen at birth?

A 
flat nasal bridge 
up slanting palpebral fissures 
low set small ears
flat occiput 
protruding tongue
single palmar crease
sandal-toe deformity
incurved 5th finger
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3
Q

What medical problems is down syndrome associated w ?

A

Hirschsprung’s disease
Duodenal atresia
CHD (VSD, PDA, AVSD)

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4
Q

What are medical signs found later in Down syndrome?

A 
delayed milestones
short stature
low IQ
Hearing impairment (secretory otitis media)
visual: cataracts, squint, myopia 
Atlanta-axial instability 
risk of pneumonia 
ALL
subfertility 
Alzheimers
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5
Q

How is Down syndrome diagnosed antenatally?

A

Combined test (11-13+6 weeks):
Nuchal translucency (thickened is associated w DS)
serum B-HCG
pregnancy associated plasma protein A (low indicates DS)
Then to confirm if higher risk:
• Chorionic villus sampling
• Amniocentesis

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6
Q

What genetic abnormality is found in Patau syndrome?

A

Trisomy 13

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7
Q

What are clinical features seen in Patau syndrome?

A 
microcephaly
exomphalos
cleft lip/palate
polydactyly 
small eyes
scalp defects
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8
Q

What is the prognosis of Patau syndrome?

A

almost all die by age 3

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9
Q

What ,medical problems are associated w patau?

A

cardiac and renal

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10
Q

What genetic abnormality is seen in Edward’s syndrome?

A

trisomy 18

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11
Q

What gender is Edward’s syndrome more common in?

A

females

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12
Q

What are some of the physical features of Edward’s syndrome?

A

micrognathia
low set ears
overlapping fingers
clubfoot (rocker bottom feet)

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13
Q

What medical problems are associated w Edward’s syndrome?

A

severe LD

VSD

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14
Q

What is the outlook for babies born with Edward’s syndrome?

A

most die by the first year

half by 2m

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15
Q

what is the genetic abnormality seen in Prader-Willi syndrome?

A

lack of paternal 15q

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16
Q

What are some of the clinical features seen in prader-willi syndrome?

A

obesity - can’t stop eating
hypogonadism
hypotonia
reduced IQ

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17
Q

What is the genetic abnormality associated w Angelman syndrome?

A

lack of maternal 15q

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18
Q

What are the clinical features of angelmans?

A 
delayed development - severe LD
ataxic jerky movements
frequent laughter and smiling 
flapping hands
may not talk
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19
Q

What is involved in the management of angelmans?

A

AEDs - valproate and clonazepam
scoliosis back brace or surgery
Orthoses
SALT

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20
Q

What is the genetic abnormality found in fragile x syndrome?

A

X-linked

trinucleotide repeat expansion of CGG

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21
Q

What are the physical features of fragile X syndrome?

A

large low set ears
long thin face
high arched palate
macroorchidism

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22
Q

What gender if fragile X syndrome more common?

A

males

females mild-normal phenotype

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23
Q

How is a diagnosis of fragile X syndrome made antenatally?

A

chorionic villus sampling or amniocentesis

24
Q

What are the signs of and medical associations of fragile x syndrome?

A 
hypotonia (delayed motor milestones)
autism is more common
mitral valve prolapse
learning difficulties 
behavioural problems
25
Q

What is a possible treatment of fragile x syndrome? What is it indicated for?

A

minocycline for. general behaviour improvement

26
Q

What is the genetic abnormality found in Klinefelter’s syndrome?

A

extra X chromosome in males

47 XXY

27
Q

What re the clinical features of klinefelter’s syndrome?

A

clumsiness

LD

28
Q

What are clinical features found in adults w klinefelters

A

tall
long limbs
gynaecomastia + infertility + hypogonadism + azoospermia

29
Q

What are individuals w klinefelters at an increased risk of ?

A

increased risk of leg ulcers, osteoporosis and breast cancer

30
Q

What is the treatment of klinefelter?

A

testosterone from puberty onwards to help development of secondary sexual characteristics and reduce long term risk of osteoporosis

31
Q

What is the genetic abnormality found in Turner syndrome?

A

there is one X chromosome in the female

or a deletion of the short arm of one X chromosome

32
Q

What are the features of Turner syndrome found in fetuses?

A

generalised oedema

nuchal thickening

33
Q

what are some of the features found in neonates w turner syndrome?

A 
peripheral oedema
webbed neck
short stature
widely spaced nipples 
short 4th metacarpal
34
Q

What are some of the late signs of Turner syndrome?

A 
ovarian defects causing infertility
hypothyroidism
moles
wide carrying angle of arm
delayed puberty
35
Q

What is the treatment of Turner syndrome?

A

growth hormone

oestrogen - development of secondary sexual characteristics

36
Q

What is the genetic anomaly in Noonan syndrome?

A

autosomal dominant mutation

37
Q

What are the cardiac problems associated w Turner syndrome?

A

bicuspid aortic valve

coarctation of aorta

38
Q

What are the physical features of Noonan syndrome?

A

short stature
webbed neck
flat nose bridge
pacts excavatum

39
Q

What are some of the medical problems associated w Noonan syndrome?

A

pulmonary valve stenosis

ASD

40
Q

What is the genetic abnormality associated w William’s syndrome?

A

deletion of 26-28 genes on chromosome 7

41
Q

What are the physical features of Williams syndrome?

A 
short stature
small upturned nose
full lips
small chin 
long philtrum 
puffy eyes
42
Q

What are some of the medical conditions associated with Williams syndrome?

A

supravalvular aortic stenosis
mild mod LD
transient neonatal hypercalcaemia

43
Q

What is muscular dystrophy?

A

group of inherited conditions w muscle degeneration often progressive

44
Q

What is the most common muscular dystrophy?

A

Duchenne muscular dystrophy

45
Q

What type of genetic disorder is DMD?

A

X linked recessive

46
Q

Explain the pathophysiology behind DMD

A

mutations in dystrophin gene (Xp21.2)

loss of dystrophin so muscles get replaced by fibroadipose tissue

47
Q

What age does DMD most commonly present?

A

1-6yrs

48
Q

wHat is the typical presentation of DMD?

A

waddling gait

Gower’s manoeuvre - using hands to climb up legs

49
Q

What abnormalities are found at birth in DMD?

A

none

50
Q

what are late effects of DMD?

A

pseudohypertrophy of calves - unable to walk by 10-14 yrs
nocturnal hypoxia
resp impairment and infections
cardiomyopathy
orthopaedic - tendon contractures, scoliosis, osteoporosis

51
Q

What are possible investigations for DMD?

A

increased serum creatinine kinase
muscle biopsy - abnormal fibres surrounded by fat and fibrosis tissue
Can also be diagnosed prenatally

52
Q

What is the management of DMD?

A
  1. Exercise to maintain muscle
  2. Passive stretching and night splints (prevent contractors)
  3. orthoses to prolong walking
  4. Truncal brace, moulded sear, surgical rod for scoliosis
  5. Overnight CPAP
  6. Prednisolone slows decline in muscle strength
53
Q

what is the median age of death of dMD>?

A

31

54
Q

How does Beckers MD differ to Duchenne?

A

some functional dystrophin is produced so produces features like it but slower progression

55
Q

what is the average age of onset of backers MD?

A

11yrs

56
Q

What is LE of bEckers MD?

A

late forties to normal

Paediatrics (56 decks)

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