Pediatric genetic syndrome and inborn error of metabolism presentation and clinical management scenarios tested on USMLE Step 2 CK.
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- Down syndrome
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Trisomy 21- What is the most common congenital heart defect seen in Down syndrome?
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Atrioventricular (AV) canal defect (endocardial cushion defect)- What GI anomaly, showing a double bubble sign on abdominal X-ray, is classically associated with Down syndrome?
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Duodenal atresia- Children with Down syndrome have an increased lifetime risk of which type of malignancy?
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Acute leukemia (ALL and AML)- Edwards syndrome
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Trisomy 18- What classic hand finding is seen in Edwards syndrome (trisomy 18)?
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Clenched fists with overlapping fingers- What foot finding is classically described in Edwards syndrome (trisomy 18)?
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Rocker-bottom feet- Patau syndrome
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Trisomy 13- What facial anomaly is classically seen in Patau syndrome (trisomy 13)?
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Cleft lip and/or cleft palate- What limb anomaly is classically seen in Patau syndrome (trisomy 13)?
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Polydactyly- Turner syndrome
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45,X (absence of one X chromosome)- What congenital heart defect is most classically associated with Turner syndrome?
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Coarctation of the aorta- What gonadal finding causes primary amenorrhea in Turner syndrome?
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Streak ovaries (gonadal dysgenesis)- What neck finding, sometimes seen prenatally as a cystic hygroma, is characteristic of Turner syndrome?
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Webbed neck- Klinefelter syndrome
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47,XXY
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