A neonate born to a 42-year-old mother has low-set malformed ears, micrognathia, overlapping flexed fingers, rocker-bottom feet, and an apneic spell. Echocardiography shows a ventricular septal defect. Which finding would best support the suspected diagnosis?
- A Hypoplastic nails and postaxial polydactyly
- B Cleft lip and holoprosencephaly with polydactyly
- C Prominent occiput and clenched hands with index finger overlapping the third ✓
- D Single palmar crease and brushfield spots
Correct answer: C. Prominent occiput and clenched hands with index finger overlapping the third
Explanation
Trisomy 18 (Edwards syndrome) shows prominent occiput, micrognathia, low-set ears, clenched hands with index finger overlapping the third finger, rocker-bottom feet and VSD. Option B describes trisomy 13 (Patau syndrome), which adds cleft lip/palate, holoprosencephaly and polydactyly. Option A fits trisomy 13 as well, while option D describes trisomy 21. Advanced maternal age supports any autosomal trisomy but the phenotype decides.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.