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 .