GENETICS MNEMONICS ON PEDIATRICS

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GENETICS MNEMONICS ON PEDIATRICS

DiGeorge syndrome symptoms: "CATCH-22"
C - Cardiac abnormalities (esp. tetralogy of Fallot)
A - Abnormal facies
T - Thymic aplasia
C - Cleft palate
H - Hypocalcaemia
22 - 22 - deletion of one copy of chromosome 22q11.2

Down's syndrome Features : "CHILD HAS PROBLEM"
C - Congenital heart disease /Cataracts
H - Hypotonia / Hyperthyroidism
I - Incure 5th finger / Increased gap between 1st and 2nd toes
L - Leukaemia (risk x2) / Lung problems
D - Duodenal atresia / Delayed development
H - Hirshsprung's disease / Hearing loss
A - Alzheimer's disease / Alantoaxial instability
S - Short neck / Squint
P - Protruding tongue / Palmar crease
R - Roung face / Rolling eye
(nystagmus)
O - Oblique eye fissure / Occiput flat
B - Behavioural difficulties
L - Low nasal bridge / Language problem
E - Epicanthic fold / Ear folded
M - Mental retardation / Myoclonus

Features of Down's Syndrome : "DOWNS"
D - Dysplastic ears/Dysplastic pelvis (seen on X-ray)
O - Occiput is flat/Overly large tongue W - Widely spaced 1st and 2nd toes and a high-arched palate/Weak/ʼfloppyʼ baby (hypotonia)
N - Neck skin abundant
S - Short, broad hands with single palmar crease/Slanting eyes/Speckled iris (Brushfield's spots)

Russell Silver syndrome features : "ABCDEF"
A - Asymmetric limb (hemihypertrophy)
B - Bossing (frontal)
C - Clinodactyly/Cafe au lait spots
D - Dwarf (short stature)
E - Excretion (GU malformation)
F - Face (triangular face, micrognathia)

Williams syndrome features: "WILLIAMS"
W - Weight (low at birth, slow to gain)
I - Iris (stellate iris)
L - Long philtrum
L - Large mouth
I - Increased Ca++
A - Aortic stenosis (and other stenoses)
M - Mental retardation
S - Swelling around eyes (periorbital puffiness)

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