Case series reveals diagnostic challenges of rare abdominal wall defects, highlighting the need for prenatal evaluations.
Background: Abdominal wall defects represent a significant spectrum of congenital anomalies, ranging from the more frequently encountered gastroschisis and omphalocele to the rare and intricate malformations such as limb-body wall complex, Pentalogy of Cantrell, and cloacal exstrophy. Understanding these conditions is crucial for improving patient outcomes. Materials and Methods: We conducted a comprehensive study presenting rare AWDs diagnosed at a tertiary referral center over two years. Our approach involved an in-depth correlation of prenatal ultrasound evaluations with findings from post-expulsion or postnatal external examinations to ensure accuracy. Results: Among the total eight cases of rare AWDs analyzed, we identified two cases of type IV body stalk anomaly, three cases of atypical gastroschisis, and one case each of Pentalogy of Cantrell, bladder exstrophy, and cloacal exstrophy. Each case illustrates the complexities inherent in these disorders. Conclusion: This series emphasizes the wide variety and diagnostic challenges of rare AWDs. A meticulous evaluation of defect location, umbilical cord insertion, and associated anomalies is vital for clear classification and enhanced prenatal counseling. By documenting these cases, we not only elevate our understanding of embryological development but also significantly improve our diagnostic capabilities, ultimately leading to better management strategies and outcomes for affected individuals.
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Gupta et al. (2026) studied this question.
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