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Y5 Paediatrics > Syndromes And Genetics > Flashcards

Syndromes And Genetics Flashcards

1
Q

What is the most common underlying cause of Turner syndrome?

A

Nondysjunction in father as X is usually from mum

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2
Q

What form of Turner syndrome is more associated with learning disability?

A

Ring X

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3
Q

Physical appearance of Turner syndrome?

A 
Short stature, increased weight
Webbed neck (cystic hygroma)
Low set ears
Low posterior hairline
Broad shield chest and widely spaced nipples
Short 4th metacarpals, small fingernails
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4
Q

What is thought to cause the webbed neck in Turner syndrome?

A

Cystic hygroma

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5
Q

What sign at birth might suggest Turner syndrome?

A

Lymphoedema - swollen hands and feet

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6
Q

What is notable about the arms in Turner syndrome?

A

Wide carrying angle

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7
Q

What hormonal changes occur in Turner syndrome?

A

Anovulation and amennorhoea (hypo GnRH)
Often low T4 Hashimoto’s
DM 1 and 2 incidence both increased

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8
Q

What heart problems occur in Turner syndrome?

A

Aortic valve stenosis
Bicuspid aortic valve
Coarctation of aorta
PAVD

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9
Q

What do most 45XO foetuses do in utero?

A

Spontaneously terminate in 1st trimester

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10
Q

How is Noonan syndrome inherited?

A

AD

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11
Q

What is the most common underlying genetic defect causing Noonan syndrome?

A

RASopathy - mutations in the Ras/MAPK signalling pathways

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12
Q

What common syndrome is thought to have a risk of malignant hyperthermia and/or poor anaesthesia clearance associated with it?

A

Noonan syndrome

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13
Q

3 heart findings in Noonan syndrome?

A

Pulmonary stenosis
ASD/VSD
Hypertrophic cardiomyopathy

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14
Q

2 skin/lymph findings in Noonan syndrome?

A 
Lymphoedema 
Webbed neck (cystic hygroma)
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15
Q

What may occur in boys with Noonan syndrome?

A

Cryptorchidism

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16
Q

What are the most common bleeding disorders that occur in Noonan syndrome?

A

Amegakaryocytic thrombocytopenia
vDW
APTT prolongation
Factor deficiencies

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17
Q

What malformation of brain is associated with Noonan syndrome?

A

Arnold chiari type 1

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18
Q

What facial appearance may suggest Noonan syndrome?

A 
Webbed neck
Hypertelorism
Epicanthal folds
Low set backwards rotated ears
Deeply grooved philtrum, micrognathia, high arched palate
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19
Q

What is the technical term for wide carrying angle?

A

Cubitus valgus

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20
Q

What is the most common robertsonian translocation causing Down syndrome?

A

46XY;t(14q21q)

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21
Q

What facial features suggest Down syndrome?

A

Slanted eyes and epicanthal folds
Flat nasal bridge
Small mouth, macroglossia
Short neck

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22
Q

What nocturnal respiratory does Down syndrome carry and why?

A

OSA - relatively large tongue for small mouth which can block airway

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23
Q

What hands and feet changes occur in Down syndrome?

A

Single palmar crease

Big gap between 1st and 2nd toe

24
Q

What neck problem occurs in Down syndrome?

A

Atlanto-axial joint instability possibly leading to cord injury

25
Q

What eye sign is suggestive of Down syndrome?

A

Brushfield spots

26
Q

Heart problems associated with Down syndrome?

A

AVSDs
Mitral valve problems
ToF, PDA

27
Q

4 cancers that have higher risk in Down syndrome?

A

AML
ALL
Transient myeloproliferative disorders
Testicular cancer

28
Q

What is the relative risk of solid organ tumours in people with Down syndrome?

A

Lower

29
Q

GI changes associated with Down syndrome?

A 
Hirschprungs disease
Duodenal atresia
Pyloric stenosis
Imperforate anus
Meckel diverticulum
GORD
Coeliac
30
Q

What is the immune system like in Down syndrome?

A

Suppressed

31
Q

What thyroid disturbances are common in syndromes e.g. Down, turner?

A

Often low - Hashimoto’s

32
Q

What is Pompe disease?

A

Glycogen storage disorder type 2 - acid maltase deficiency due to GAA gene mutation, causing hypotonia myopathy hepatomegaly and HOCM within first few months of life. Treatment is myozyme - recombinant human GAA

33
Q

What is the most common urea cycle defect?

A

OTC deficiency

34
Q

What is the most severe urea cycle defect?

A

CPS1 deficiency

35
Q

Give 3 organic acidaemias?

A

Methylmeluric aciduria
Isovaleric acidaemia
Maple syrup urine disease

36
Q

What kind of acid base disturbance and other metabolic disturbances feature in organic acidaemias?

A

Metabolic acidosis
Ketotic hypglycaemia
Raised ammonia

37
Q

What does VACTERL stand for?

A 
Vertebral anomalies e.g. Butterfly vertebra
Anorectal anomalies
Cardiac defects
TOF
EOA
Renal and radial abnormalities
Limb defects
38
Q

What does ‘smelly feet odour’ in unwell neonate suggest?

A

Isovalaeric acidaemia

39
Q

What is primary HLH caused by?

A

AR gene mutations e.g. Perforin (PRF1)

40
Q

3 things which might underlie secondary HLH? Particular infection?

A

Strong infection e.g. EBV
Immunodeficiency
Malignancy

41
Q

What is HLH?

A

Cytokine storm disease characterised by uncontrolled proliferation and activation of lymphocytes/macrophages

42
Q

When does HLH typically occur?

A

Within 1st year of life

43
Q

What might typical signs and symptoms of HLH be?

A 
Rash
Jaundice
Fever
HSM
Lymphadenopathy
44
Q

What bone marrow picture does HLH cause?

A

Hypocellular causing low e.g. RBCs, neutrophils, platelets

45
Q

What does HLH show on blood/lymph/marrow film?

A

Haemophagocytosis

46
Q

What 3 blood markers might be altered in HLH?

A

Raised triglycerides
Low fibrinogen
Raised ferritin

47
Q

Cure fo HLH?

A

BMT

48
Q

What does CHARGE syndrome stand for?

A 
Coloboma
Heart defects
Atresia of choana
Retardation of growth and development
Genital abnormalities
Ear abnormalities
49
Q

What underlies CHARGE syndrome?

A

AD inheritance of CHD7 mutation

Causes failure of growth of midline structures during 2nd month of gestation

50
Q

6 syndromes which may feature radial abnormalities?

A

Thrombocytopenia-absent radius syndrome (TAP)
VACTERL
Edwards syndrome
Cornelia de Lange syndrome
Fanconi anaemia
Valproate or thalidomide exposure in utero

51
Q

What is the Pierre Robin sequence?

A

Micrognathia leading to glossoptosis leading to airway obstruction
Often in the setting of cleft palate

52
Q

4 syndromes associated with Pierre Robin sequence?

A

Fetal alcohol syndrome
Stickler syndrome
Di George/velocardiofacial syndrome
Treacher Collins syndrome

53
Q

What is Stickler Syndrome?

A

AD collagen disorder causing flattened face with Pierre Robin sequence, underdeveloped midface
High myopic eyes, abnormal vitreous and cataracts/glaucoma
Hearing loss
Other hypermobility, scoliosis and MSK features etc.

54
Q

What is Treacher Collins syndrome?

A

AD craniofacial disorder associated with Pierre Robin, downward slanting eyes with lower lid coloboma and abnormal ears/hearing loss

55
Q

What is Moebius syndrome?

A

Congenital absence of CNS 6 and 7 plus or minus 5, 9, 10 and 12
Plus upper body weakness, dental problems/high palate, syndactyly, hearing problems

56
Q

What is Haddad syndrome and what gene is associated?

A

Ondine’s curse plus Hirschprungs disease in setting of PHOX2B mutation

57
Q

What is the pentalogy of Cantrell?

A 
Exomphalos
Cleft sternum
Anterior diaphragmatic hernia
Heart defects incl ectopia cordis
Pericardial agenesis

Y5 Paediatrics (13 decks)

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