Congenital shite (including CF) Flashcards
What congenital conditions are these:
a. small eyes, cleft palate & extra finger
b. overlapping fingers, rocker bottom feet, small head
c. protruding ears, long face, big testes, ASC/ADHD, mitral valve prolapse
d. webbed neck, short, pulmonary stenosis, pectus excavatum
e. micrognathia, cleft palate, tongue deviation
f. obesity, hypotonia, hypogonadism
g. elfin facies, friendly, supravalvular aortic stenosis, high Ca
h. only girls, short, wide nipples, webbed neck, low hariline, puffy feat, biscupid aortic valve, aortic coarctation, horeshoe kidney, cystic hygromma, amenorrhoea
i. celft palate, thin upper lip, railroad track ears, almoed shapped eyes, long nose, smooth philtrum
a. pataus (trisomy 13)
b. edwards (trisomy 18)
c. fragkile X
d. noonan
e. pieere robin
f. prader willi
g. williams
h. turners
i. 22q11 deletion syndrome
what congenital conditions cause these heart defcts…
- pulomnary stenosis
- supravalvular stenosis
- aortic coarction
- biscupid aortic valve
- AVSD
- teratology of fallot
- PDA
- endocardial cushion defect
- Noonans
- Williams
3 & 4. Turners
5, 6, 7, 8. Downs
waht congenital conditions cause cleft palate
Pataus
Pierrer Robin
Palate -> Pataus & Pierre robin
what type of inheritance is Fragile X and what is the implication of that
Nucleotide Repeat Disoder
You get Gentic anticpation -> next generation is gonna be worse
what trisomies are downs, pataus & edwards
downs -> 21
pataus -> 13
edwards -> 18
what could be going on if a kid has…
Small head & eyes
Thin upper lip
Upturned nose
Smooth philtrum
Short palpepral fissures
Fetal alcohol syndrome
what congenital abdo problems are these…
a. lateral to umbilicus, mum likes a bit of smoking & crack
b. central, ‘cherry red’ growth
c. central, contents still covered in amnitoic sac, needs to do a c-section & staged surgery repair
d. just need to watch & wait
a. gastrochiriss
b. umbilical granuloma
c. ompaholcele
d. umbilcial hernia
what to you worry about for a DOWNS person who does sport
risk of neck dislocations due to Atlanto-axial instabilitly
why you should you always screen for it
what congenital infections are these…
a. sensorinueral deafness, cataracts, ‘salt & pepper’ chorioretinitis, PDA, blueberry muffin rash
b. cerebral calcifications
c. most common, purpura, seizures, bluebery muffin rash
(all cause cerebral palsy & hepatosplenomegaly)
a. rubella
b. toxoplasmosis
c. CMV
A kid is born with…
Resp distress (needs intubation)
“Tinkling” sounds in chest
Scaphoid abdomen
- what is it
- what side is it usually on
- management
- what is it if you also have omphalocele
- prognostic indicators
- congentil diaphragmatic hernia (herniation of abdo contents into chest)
- Left
- Intubation & ventilation
- Malrotation
- Liver position
what are the main featurs of 22q11 deletion syndrome (De Gerorge’s)
what diet can be effective
CATCH 22
Cleft palate
Abnormal face
Thymic hypoplasia
Calcium low
Heart problems
22 chromosome is fucked
diet -> keto
what chromosome is affected in turners
what are some of the systemic features
45 X -> so like obvs boys can’t be affected eh
Systemic features…
Biscupid aortic valve
Aortic coarctation
Amenorrhoea
Horeshoe kidney
Cystic hygroma
Heamophilia
what is the defintition of a syndrome
Lots of congenital anomalies grouped together
what sorta tests can be donw to lool at chromosomes
Microarray tests
what are some of the complications of downs
Cardiac stuff (ToF, PDA, AVSD…)
GI stuff (hirchsprungs, duodenal artresia)
Subfertiility
Short
Learing disability
ALL
Alzhemiers
what are the features of downs
Upward palpebral fissures
Prominent epicanthal folds
Round face
Protruding tongue
Brushfeild sports
Single palmar grease
Wide sandal gap
Hypotonia
Snooring
