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YR5 Specialties > Paeds GENETICS > Flashcards

Paeds GENETICS Flashcards

1
Q

Recall the signs and symptoms of Patau’s

A

Use mnemonic ‘microcephaly’:
M: mental retardation
13 (trisomy)
C: cleft lip + palate
R: renal- polycystic kidney disease
O: omphalocele
C: cardiac
E: eyes small
P: polydactyly
H: holoprosencephaly
L: lbw

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2
Q

Recall some key features of Edward’s syndrome

A

Use mnemonic CrIEs of SORROW
C: cardiac
I: intellectual disability
E: ears low-set
S: small mouth + chin (Micrognathia)
O: overlapping fingers
R: renal- horseshoe kidneys
R: Rocker-bottom’ feet
O: omphalocele
W: lbw

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3
Q

Recall 3 key features of Down’s

A

Single palmar crease
‘sandal gap’ abnormality
upslanting palpabral fissures

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4
Q

What is mutated in Noonan’s syndrome?

A

RAS/ MAPK

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5
Q

Recall 4 features of Noonan’s

A

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

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6
Q

What is the genetic difference between PWS and Angelman’s?

A

PWS = lack paternal 15q
Angelman = lack maternal 15q

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7
Q

What is the genetic mutation in Turner’s?

A

Female missing/ partly missing an X chromosome

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8
Q

Recall 7 some features of Turners

A

Neonatally: cystic hygroma + lymphoedema
Infertility due to ovarian dysgenesis
Wide carrying angle
Webbed neck
Bicuspid aortic valve > aortic coarctation
Horseshoe kidney
Hypothyroidism

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9
Q

Recall 4 features of Kleinfelter’s

A

Infertility
Hypogonadism
Gynaecomastia
Tall stature

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10
Q

What mutation causes fragile X?

A

CGG trinucleotide expansion - FMR1 gene

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11
Q

Recall the symptoms of Fragile X

A

MALE MOPS
M: macrocephaly
A: autism
L: laxity of joints
E: ears are large + low-set
M: macro-
O: orchidism
P: prolapsed MV complication
S: scoliosis

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12
Q

What is the triad of abnormalities seen when there is maternal rubella during pregnancy

A

Cataracts
Deafness
Cardiac abnormalities- PDA

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13
Q

What is the prognosis for Patau’s syndrome?

A

80% die in first month

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14
Q

What is the prognosis for Noonan’s?

A

Varies massively as penetrance varies massively too

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15
Q

What is the phenotype of Angelman’s?

A

Cognitive impairment
Ataxia
Epilepsy
Abnormal facial appearance

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16
Q

What is the most common heart defect in Down’s syndrome?

A

AVSD

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17
Q

Recall some of the possible later complications of Down’s syndrome

A

Secretory otitis media (75%)
OSA (50-75%)
Learning difficulty
VI Joint laxity

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18
Q

Recall 5 conditions that those with Down’s are at an increased risk of developing

A

AML
Hypothhyroidism
Coeliac
Epilepsy
Early-onset alzheimer’s

19
Q

What should be checked for annually in those with Down’s syndrome

A

Hearing test
Thyroid
Eye test
Hb (for IDA),

20
Q

For how long is a baby considered a neonate?

A

Up to 28 days old

21
Q

What is considered ‘term’?

A

27-41 weeks old

22
Q

What is the pathophysiology of cleft lip/ palate?

A

Failure of fusion of the frontonasal and maxiliary processes

23
Q

Recall one condition that babies with cleft lip/ palate are at an increased risk of

A

Secretory otitis media

24
Q

Recall 2 maternal risk factors for cleft lip/ palate

A

Antiepileptic/ BDZ use

25
Q

What are some pre-surgical concerns to bear in mind in cleft lip/ palate?

A

Specialised feeding
Watch out for aiway problems
Pre-surgical lip-tapping/ nasal alveolar modelling to narrow cleft

26
Q

What is oesophageal atresia?

A

Malformation of the oesophagus so that it does not attach to the stomach

27
Q

What is tracheo-oesophageal fistula?

A

Part of the oesophagus is joined to the trachea - often occurs alonsgide OA

28
Q

What is the main risk of oesophageal atresia/ tracheo-oesophageal fistula?

A

Stomach acid can regurgitate into the lungs causing CLD/ BPD (bronchopulmonary dysplasia)

29
Q

What is the main gene implicated in CAKUT?

A

PAX 2

30
Q

Recall 4 renal conditions of CAKUT

A

Multicystic kidneys
Renal agenesis
Medullary sponge kidney
Horseshoe kidney

31
Q

Recall 3 non-renal conditions of CAKUT

A

Pelvouteric junction obstruction
Vesicoureteral reflux (in 30% of children presenting with UTIs)
Bladder outlet obstruction

32
Q

Recall some antenatal signs of CAKUT

A

Oligohydramnios
Decreaed foetal UO

33
Q

Recall some postnatal signs of CAKUT

A

Often present with UTI
Intra-abdominal mass
Haematuria
Renal calculi/ renal failure
Hepatosplenomegaly

34
Q

What is Potter’s sequence?

A

BL renal agenesis
Abnormal facies (widely separated eyes, low set ears, receding jaw)
Caused by OLIGOHYDRAMNIOS

35
Q

Recall five important investigations you could do when looking for a cause of CAKUT

A

Renal USS
DMSA scan (Tc-99) - detects scarring + functional defects
MCUG (micturating cystourethrogram) - visualises anatomy (would see VUR)
MAG3 renogram (also Tc-99) - dynamic screen shows MAG3 being excreted into urine using furosemoide
Genetic karyotyping

36
Q

What are some signs of an atypical UTI?

A

Poor UO
Sepsis
Abdo/bladder mass
Failure to respond in <48 hours
Raised creatinine
Infection with non-E coli organisms

37
Q

How do you choose which investigation to use in UTI?

A

If atypical UTI, recurrent UTI, or first UTI
<6m: Renal USS
If recurrent UTI or atypical UTI <3 years old: DMSA scan
If VUR is suspected on USS, obstruction or trauma: MCUG/ VCUG

38
Q

What is the pathophysiology of VUR?

A

The ureters enter the bladder perpendicularly –> shorter intramural course –> VUR

39
Q

What is the main factor affecting prognosis of VUR?

A

Whether there’s a renal cause or not:
renal causes: bad prognosis
non-renal causes: pretty good prognosis if treated

40
Q

What are the types of anorectal malformation, and how can you tell the difference between them?

A

Low anorectal anomaly = anus closed over - in a different position or narrower than usual + fistula to skin

High anorectal anomaly - bowel has closed end at high level, not connecting with anus - fistula is usually to bladder/ urethra/ vagina

41
Q

What are the symptoms of anorectal malformation?

A

Absent/ delayed meconium
Swollen abdomen
Vomiting
If there’s a fistula they may pass stool from an abnormal area

42
Q

How should anorectal malformation be investigated?

A

Checked on neonatal check - it’s a clinical diagnosis

43
Q

How is anorectal malformation managed in babies?

A

Surgical correction by 9 months

YR5 Specialties (27 decks)

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