Paeds GENETICS Flashcards by Georgia Leggett

Recall the signs and symptoms of Patau’s

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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Recall some key features of Edward’s syndrome

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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Recall 3 key features of Down’s

Single palmar crease
‘sandal gap’ abnormality
upslanting palpabral fissures

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What is mutated in Noonan’s syndrome?

RAS/ MAPK

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Recall 4 features of Noonan’s

Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis

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

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

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What is the genetic mutation in Turner’s?

Female missing/ partly missing an X chromosome

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Recall 7 some features of Turners

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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Recall 4 features of Kleinfelter’s

Infertility
Hypogonadism
Gynaecomastia
Tall stature

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What mutation causes fragile X?

CGG trinucleotide expansion - FMR1 gene

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Recall the symptoms of Fragile X

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

Cataracts
Deafness
Cardiac abnormalities- PDA

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What is the prognosis for Patau’s syndrome?

80% die in first month

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What is the prognosis for Noonan’s?

Varies massively as penetrance varies massively too

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What is the phenotype of Angelman’s?

Cognitive impairment
Ataxia
Epilepsy
Abnormal facial appearance

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

AVSD

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

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

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

AML
Hypothhyroidism
Coeliac
Epilepsy
Early-onset alzheimer’s

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

Hearing test
Thyroid
Eye test
Hb (for IDA),

For how long is a baby considered a neonate?

Up to 28 days old

What is considered ‘term’?

27-41 weeks old

What is the pathophysiology of cleft lip/ palate?

Failure of fusion of the frontonasal and maxiliary processes

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

Secretory otitis media

Recall 2 maternal risk factors for cleft lip/ palate

Antiepileptic/ BDZ use

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

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

What is oesophageal atresia?

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

What is tracheo-oesophageal fistula?

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

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

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

What is the main gene implicated in CAKUT?

PAX 2

Recall 4 renal conditions of CAKUT

Multicystic kidneys Renal agenesis Medullary sponge kidney Horseshoe kidney

Recall 3 non-renal conditions of CAKUT

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

Recall some antenatal signs of CAKUT

Oligohydramnios Decreaed foetal UO

Recall some postnatal signs of CAKUT

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

What is Potter's sequence?

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

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

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

What are some signs of an atypical UTI?

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

How do you choose which investigation to use in UTI?

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

What is the pathophysiology of VUR?

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

What is the main factor affecting prognosis of VUR?

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

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

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

What are the symptoms of anorectal malformation?

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

How should anorectal malformation be investigated?

Checked on neonatal check - it's a clinical diagnosis

How is anorectal malformation managed in babies?

Surgical correction by 9 months