An 8yo child who is tall for his age and has a refractory error for which he wears glasses has
presented with severe crushing chest pain. What is the most likely dx?
a. Fragile X syndrome
b. Prader-willi syndrome
c. DiGeorge syndrome
d. Marfans syndrome
answer: D marfans due to aortic dissection
Fragile X: learning difficulty, big head, long face, everted ears....mitral valve prolapse
Prader willi : characteristic face, hypotonia, hypogonadism, learning difficulty, obese, can't stop eating
DiGeorge
Cardiac abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism
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