Paeds GENETICS Flashcards
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
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
Recall 3 key features of Down’s
Single palmar crease
‘sandal gap’ abnormality
upslanting palpabral fissures
What is mutated in Noonan’s syndrome?
RAS/ MAPK
Recall 4 features of Noonan’s
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
What is the genetic difference between PWS and Angelman’s?
PWS = lack paternal 15q
Angelman = lack maternal 15q
What is the genetic mutation in Turner’s?
Female missing/ partly missing an X chromosome
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
Recall 4 features of Kleinfelter’s
Infertility
Hypogonadism
Gynaecomastia
Tall stature
What mutation causes fragile X?
CGG trinucleotide expansion - FMR1 gene
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
What is the triad of abnormalities seen when there is maternal rubella during pregnancy
Cataracts
Deafness
Cardiac abnormalities- PDA
What is the prognosis for Patau’s syndrome?
80% die in first month
What is the prognosis for Noonan’s?
Varies massively as penetrance varies massively too
What is the phenotype of Angelman’s?
Cognitive impairment
Ataxia
Epilepsy
Abnormal facial appearance
What is the most common heart defect in Down’s syndrome?
AVSD
Recall some of the possible later complications of Down’s syndrome
Secretory otitis media (75%)
OSA (50-75%)
Learning difficulty
VI Joint laxity
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
