A newborn girl has microphthalmia, bilateral cleft lip and palate, postaxial polydactyly, and holoprosencephaly detected on cranial ultrasound. She also has scalp skin defects and clenched fists. Chromosomal analysis shows 47,XX,+13. Which additional finding is most characteristically associated with this aneuploidy?
- A Holosystolic murmur of ventricular septal defect with rocker-bottom feet
- B Endocardial cushion defect with single palmar crease
- C Omphalocele and polycystic kidneys ✓
- D Congenital aganglionic megacolon
Explanation
Trisomy 13 (Patau syndrome) features include microphthalmia, cleft lip and palate, polydactyly, holoprosencephaly, cutis aplasia of the scalp, and visceral anomalies, particularly omphalocele and polycystic kidneys. Rocker-bottom feet with overlapping fingers typify trisomy 18, making option A a description of Edwards syndrome despite the shared finding of cardiac defects. Endocardial cushion defects with a single palmar crease define trisomy 21. Hirschsprung disease has known associations with trisomy 21 and RET mutations, not trisomy 13, so option D is incorrect here.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.