Conclusion
This case study reports a rare case of a patient with Trisomy 13 that presented both ectrodactyly and CDH, which are very rarely presented with Trisomy 13. Our findings expand the known clinical features of trisomy 13 by including ectrodactyly as a possible trisomy 13–associated limb malformation. In addition, CDH is an unusual trisomy 13 manifestation for which creating a treatment plan is difficult without a confirmed diagnosis. Thus, we highlight the importance of performing antenatal genetic tests to establish more specific treatment strategies and offering genetic counseling and parental support for cases in which multiple congenital defects have been detected in utero .