A male infant is born with overlapping fingers (second over third, fifth over fourth), rocker-bottom feet, prominent occiput, and a ventricular septal defect. Karyotype shows 47, XY +18. The eponym for this syndrome is:
- A Down syndrome
- B Edwards syndrome ✓
- C Patau syndrome
- D Cri-du-chat syndrome
Correct answer: B. Edwards syndrome
Explanation
Trisomy 18 (Edwards syndrome) presents with overlapping fingers, rocker-bottom feet, prominent occiput, micrognathia, and congenital heart defects. Most die within the first year. Trisomy 21 (Down) has different facies and cardiac defects; trisomy 13 (Patau) has midline defects (holoprosencephaly) and polydactyly; cri-du-chat is a deletion of 5p causing a high-pitched cry.
Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.