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Case Reports
. 2021 Sep 23:9:729932.
doi: 10.3389/fped.2021.729932. eCollection 2021.

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome

Sriharsha Talluri  1 , Michael A Goedde  1 , Eran Rosenberg  1   2 , Katie L Canalichio  1   2 , Dennis Peppas  1   2 , Jeffrey T White  1   2
Affiliations
Case Reports

Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome

Sriharsha Talluri et al. Front Pediatr. .

Abstract

Prune belly syndrome (PBS) is a rare congenital disease that predominantly occurs in males and is identified by its classic triad of abdominal wall musculature deficiencies, cryptorchidism, and urinary tract abnormalities. However, numerous anomalies involving the kidneys, heart, lungs, and muscles have also been reported. A multitude of chromosomal abnormalities have been implicated in its pathogenesis. PBS can occur in association with trisomy 18 and 21. Gene duplications and deletions have also been reported; however, a definite cause of PBS is still unknown. We report the first PBS patient with a copy number variant in 16p11.2.

Keywords: chromosomal duplication; cryptorchidism; pediatric urology; prune belly syndrome; vesicoureteral reflux.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Keyhole sign on prenatal ultrasonography.
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