chemamr
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Itīs a Pediatric patient with shield chest, cleft lip, triphalangeal thumb, web neck, short stature, with pallor. You asks him a complete blood count and it has macrocytic anemia.
Which is your diagnostic impression?
Which would be the treatment of choice?
Which type of cancer could this patient develop?
Is it inherited or not and if it is inherited which type of?
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| intern_doc
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a. Turner's syndrome
b. OCP
c. endometrial CA
d. not that I know of
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| chemamr
Moderator and PGY2
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sorry, I forgot to say itīs a Boy.
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| intern_doc
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a. noonan's syndrome
b. none...maybe growth hormone
c. testicular CA
d. autosomal dominant
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| merrk
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Diamond-Blackfan Syndrome; an autosomal recessive, Pure red cell aplasia of unknown etiology. It's associated with short stature, Web neck, shield chest, cleft lip & triphalangeal thumb.
(hehe I googled it)
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| drkpp
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very interesting merrk..
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| chemamr
Moderator and PGY2
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CORRECT MERRK,  , itīs a hard question i know but itīs better to know it than not.
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