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