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Old 04-18-2010
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Default Routine Baby Exam

You are called to do a routine well-baby examination in the nursery a female newborn who was born to a 31-year-old G3P3 woman without delivery complications. On examination the infant is placid and has microcephaly. She has also has slanted eyes, flattened bridge of her nose, and appears to be limp. When look closely on the eyes you noticed whitish spots in the periphery of the iris that resemble grains of salt. Which of the following is most likely to be true?

A- The infant probably will die of renal disease.
B- The mother is most likely alcoholic
C- The infant karyotype is 45XO
D- The infant will likely develop leukemia
E- The infant is likely to have ambiguous genitalia
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Old 04-18-2010
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This is a case of newborn with Down syndrome and she is at increaded risk for devoping leukemia and other malignancies, dementia and ischemic cardiac disease (3 classic USMLE correlations) later in life. -- Choice D

P/S: the lesions at the periphery of the iris are known as Brushfield spots.
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Old 04-18-2010
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Default IHD or CHD in Down!

Yes, you are right it's down syndrome with brushfield spots. and the answer is D.
but do they have congenital or ischemic heart disease!
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Old 04-18-2010
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I apologize, it was a misconception on behalf of me. Patient's with Down syndrome have DECREASED risk for cancer (except leukemia) & coronary artery disease. SORRY, GUYS!

Of course, the correlation between Down syndrome & congenital heart disease (mainly cushion defects) is of paramount importance.
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Pediatrics-, Step-2-Questions, Syndromes-Acronyms

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