Congenital Syndromes

Question 1

Di George syndrome characteristics

Answer 1

CATCH-22

C - Cardiac abnormalities (tetralogy of fallot)
A - Abnormal facies
T - Thymus hypoplasia (predisposition to infections)
C - Cleft palate
H - Hypocalcaemia/hypoparathyroidism
22 - Chromosome 22 long arm deletion

Deformity of THIRD AND FOURTH PHARYNGEAL POUCHES

Question 2

Turner syndrome genetic abnormalitie

Answer 2

45 XO

Question 3

Turner syndrome characteristics

Answer 3

Webbed neck
Short stature
Widely spaced nipples
Primary amenhorrea 
Coarctation of the aorta
Lympoedma of hands and feet in neonatal period

Question 4

Down’s syndrome characteristic eye findings

Answer 4

Brushfield spots and epicanthic folds

Question 5

Congenital toxoplasmosis infection triad

Answer 5

Tram like calcifications of brain on CT
Chorioretinitis
Hydrocephalus

Question 6

Port wine stain associated with which syndrome

Answer 6

Sturge-Weber (abnormal blood vessel formation on the surface of brain - predisposition to strokes)