Paeds Flashcards
Transportation of great vessels
A
Literal switch of pulmonar A and aorta. -due to failure of aprticopulmonary septum to spiral during separation
This leads to two separate circulations. Therefore deox blood going to body and O2 to
Lungs
Px almost immediate cyanosis, deoxygenation, respiratory distress
Cxr —> egg on side appearance
Only way babies survive is through VSD and PDA
Hint: stem of Q may suggest mother didn’t go to ANC (otherwise can be picked up )
Congenital infections
CMV:
- most common in UK
- growth retardation + purpuric skin lesion
Toxoplasmosis - brain
- cerebral calcification
- Chorioretinitis
- Hydrocephalus
Rubella: - BELLA CANT SEE OR HEAR BLOODY WOMEN
Sensorineural deafness
Congenital cataracts
Congenital heart disease
Ebstein anomaly
Ebstein anomaly
Cause – Li exposure in-utero
Congenital heart defect – Low insertion of tricuspid valve –> large atrium + small ventricle.
Get tricuspid incompetence – pan-sys murmur,
Giant V waves in JVP
Associated with WPW
Turners syndrome
- CLOWNS ABC
45 XO - therefore more likely to
Develop X linked conditions, eg haemophilia
C - cardiac abnormalities - bicuspid aorta (most common), aortic root dilatation, coarctation of aorta
L - lymphoedema and low thyroid
O - ovaries under developed
W - webbed neck
N - nipples wide
S - short stature, sensorineural HL, short 4th metacarpal
A - primary Amennorhea
B - absent Barr bodies
C - cystic fibrosis
N
Prader willi syndrome
Abscense of prader willi gene on chromosome 15 on paternal side - normally paternal
(SOM) eats too much (T)hough (H)e (H)as small hands, small feet and a fish shaped mouth.
S-short stature
O - obeisity
M - mental retardation - LD
Eats too much -hyperphagia
T - tone decreased
HH - hypogonadotrophic hypogonadism
Small hands and feet and a fish shaped mouth
Hereditary haemorrhagic telangectasia
AD
Recurrent nose bleed
Visible Visceral AVMS
Mucocutaneous telangectasia
FHx
Edward’s syndrome :
“E.D.W.A.R.D”
E - elongated head/chromosome 18 D - Digit overlap W - VSD A - Apnoea R - Rocket bottom sole D - Decrease IQ/Dysplastic ears
Patau
” PAtau Syndrome”
Patau sydnrome - 13 words –> Chromosme 13
Turn 13 on its side.:
1= polydactyly
3 = cleft lip
Di-George Syndrom:
“Catch 22”
Catch a FISH = Investigation = FISH
C- Cardiac abnormalities = TOF A - abnormal facies T - Thymic hyperplasia C - Cleft lip H - HyperCa
22 = 22q11 deletion
Williams syndrome
W.I.L.L.I.A.M.S
W - wt loss I - Stellate Iris L - Large mouth L - long philtrum I - Inc Ca A - A.S. (supravalvular) M - Mental retardation S - Chromsome 7
Noonans
“ The sun burns at NOON”
Noon = 12 = Chromsme 12
SST
Unusual Chest
N - webbed neck
Bleeding Unusual face Ras MDK mutatiion N - nose flat S - pulmonary stenosis
Cant look up at noon –> everything down - ears/eyes/hair line.IGF/Stature
Fragile X syndrome
“FRAGILE X”
F - FMPR - 1 Gene R - rpt trinucleotied CGC A - Autism G - giant testes I - IQ down L - long face + large jaw E - Everted eyes
X - Xlinked
Fabrys Dx:
” FABRY C”
F - Foam cells/Febrile epilepsy A - Angiokeratoms/IgA deficiency B - Burning pain/bathing suit/Boys (X linked) R- Rfx Y - Youth death
C - CV Dx
X linked recessive conditions:
“Oblivious Female Will Give Her Boys Her x-Linked Disorder”
occular albinism/fabrys/wiskott-aldrich/G6PD/hunters dx/Brutons Agammaglobulinaemia/ HAemophillia A + B/LEsch-nyhans/DMD
Angelman
HAppy laughing puppet
Chromosome 15
