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Question - mutation
#1
A couple adopted a 5 year old boy brought him into your clinic. On examination he is shorter relative to his age, slanted palpebral fissue, ptosis, low set ears, broad webbed neck, shielded chest, cryptochidism. A systolic ejection murmur at the pulmonic region is heart. He was diagnosed with learning disabilities and receives speech therapy for language delay. His constellation of symptoms is suggestive of which of the following?

a. Noonan syndrome
b. Congenital hypothyroidism
c. Turner syndrome
d. Congenital rubella
e. Down syndrome
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#2
CCC
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#3
CCC
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#4
sorry read the question wrong its a boy cant be turner
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#5
noonnan syndrome the male version of turner
AAAA
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#6
Excellent, Hopeblessing! You got it!

Noonan syndrome characterized by: hypogonadism, MR, short stature, webbed neck. (Similar to Turner's syndrome)
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