Abdominal wall defects

Lakshminarayanan, Bhanumathi; Lakhoo, Kokila

doi:10.1016/j.earlhumdev.2014.09.018

Cited by 17 publications

(10 citation statements)

References 24 publications

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“…The most common chromosomal abnormality associated with an omphalocele is trisomy 18 (50.1%) [ 7 ], trisomy 13 (28.8%) [ 8 ], and trisomy 21 (8.3%) [ 1 , 9 ]. Other less common chromosomal abnormalities reported co-occurring with an omphalocele include triploidy, 45, XO, 47, XXY, and 47, XXX [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

Zhou

O’Conor

Gangahar

et al. 2018

Case Reports in Pediatrics

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Background Omphalocele is a rare congenital abdominal wall defect. It is frequently associated with genetic abnormality and other congenital anomalies, although isolated omphalocele cases do exist. Data have shown that omphalocele with co-occurring genetic abnormality has worse prognosis than isolated omphalocele. Chromosomal analysis by a conventional technique such as karyotyping can only detect aneuploidy and large segmental duplication or deletion. Newer techniques such as high-resolution microarray analysis allow for the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to identification of critical region and genes in the pathogenesis of omphalocele. Case Presentation The current study is the initial report of a newborn male with a 15q23 gain and a giant omphalocele. High-resolution chromosomal microarray analysis identified this gain of copy number spanned 676 kb, involving almost the entire NOX5 gene (except for exon 1 of the longer transcript), the entirety of the EWSAT1, GLCE, PAQR5, KIF23, RPLP1, and DRAIC genes and exons 1–3 of the PCAT29 gene. Conclusion To date, this is the first report of an associated 15q23 gain in a case with omphalocele. Interestingly, Giancarlo Ghiselli and Steven A Farber have reported that GLCE knockdown impairs abdominal wall closure in zebrafish. We also identified GLCE gene alteration in our case. This highlights the importance of GLCE in abdominal wall development. Further study of the function of GLCE and other genes might lead to a better understanding of the molecular mechanism of omphalocele.

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Section: Discussionmentioning

confidence: 99%

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

Zhou

O’Conor

Gangahar

et al. 2018

Case Reports in Pediatrics

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“…Full-term delivery was encouraged, but the latter depends on fetal and/or maternal indications. 10,11 Omphaloceles are classified as 'minor' or 'major' depending on the sac's contents and the defect's diameter. Most 'minor' cases have diameters less than 5 cm and contain small portion loops of the small bowel.…”

Section: Case Reportmentioning

confidence: 99%

“…Children's Hospital of Orange country recommends maintaining sac integrity by using 1) utilized sterile gloves when handling, 2) placing the neonate in a bowel bag lined with a small amount of warm sterile saline solution, and 3) positioning the neonate sideline while supporting the omphalocele with blanket rolls to optimized perfusion and prevent compression of blood vessels. 3,11 Omphalocele treatment aims to reduce the abdominal content followed by the closure of the abdominal wall defect. 16 The current primary treatment is divided into two basic categories: 1) non-operative delayed closure (involves the maintenance of the sac with topical medications and regular dressings, providing epithelization, also known as Paint and Wait for methods), 2) removal of the graft and primary closure after ensuring epithelization with the graft in the early period.…”

Section: Maldevelopmentmentioning

confidence: 99%

Silver sulfadiazine as the topical treatment for giant omphalocele: a case report

et al. 2022

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Background: Major omphalocele is defined as an abdominal defect greater than 5 cm with the presence of the liver and most parts of the bowel in the sac. The management remains challenging for pediatricians and surgeons with remarkably high mortality. Reports about topical agents/dressing used as escharotic therapy, such as silver sulfadiazine, povidone-iodine, topical antibiotics, or honey, have been published with different results. Continued application of a thick layer of silver sulfadiazine on the omphalocele surface is needed to promote eschar formation and neo-epithelialization. Case description: A term, 2700-gram newborn male infant presented with abdominal defect and herniated abdominal contents covered by a membranous sac containing liver that is widely known as omphalocele. A thick layer of silver sulfadiazine was applied repeatedly onto the omphalocele sac to promote epithelialization and successfully reduce the sac diameter. The patient showed a positive outcome as it reduced the omphalocele size after nine days. The patient family has been educated about the continued application of silver sulfadiazine. Although non-operative delayed treatment has lower mortality rates and better clinical outcomes, the patients should wait for the reconstruction surgery for a long time. Conclusion: Conservative treatment with silver sulfadiazine is safe and shows satisfying results to the giant omphalocele.

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“…AWDs that occur most commonly are gastroschisis and omphalocele (33) (Figure -5). Gastroschisis is a paraumbilical AWDs associated with protrusion of the abdominal content through a defect, while in omphalocele the defect is the location of the umbilicus and abdominal viscera outside the belly in a herniated sac (34,35). Omphalocele is characterized by the failure of the physiological hernia to return to the abdominal cavity (36).…”

Section: Undescended Testis In Patients With Abdominal Wall Defectsmentioning

confidence: 99%

The role of intra-abdominal pressure in human testicular migration

2021

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Abdominal wall defects

Cited by 17 publications

References 24 publications

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

15q23 Gain in a Neonate with a Giant Omphalocele and Multiple Co-Occurring Anomalies

Silver sulfadiazine as the topical treatment for giant omphalocele: a case report

The role of intra-abdominal pressure in human testicular migration

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