A 3m infant has presented with recurrent infections. He has abnormal facies and CXR shows
absent thymic shadow. What is the most likely dx?
a. Downs syndrome
b. Fragile X syndrome
c. DiGeorge syndrome
d. Marfans syndrome
answerC
DiGeorge
Cardiac abnormality (especially tetralogy of Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism
Fragile X: learning difficulty, big head, long face, everted ears....mitral valve prolapse
Turner syndrome: female
Noonan
affects both males and females
Short stature, webbed neck, triangular facies,
hypertelorism, low set ears, epicanthal
folds, ptosis
Pectus excavatum
Right-sided CHD, pulmonary stenosis
Prader willi : characteristic face, hypotonia, hypogonadism, learning difficult, obese, can't stop eating
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