Diagnosis of recurrent gastroschisis in Cali, Colombia: A case report and review of the literature

Abstract

Objective: To review the literature on the pathophysiology of gastroschisis, in particular as refers to the theories of the genetic aetiology of this condition. Materials and methods: Presentation of a clinical case of a foetus and subsequent neonate diagnosed with gastroschisis, born to a mother with a prior history of another child with gastroschisis. A search was conducted in the Medline/Pubmed database of the literature published in Spanish and English during the period between January 2000 and January 2013. The terms used were gastroschisis, abdominal wall abnormalities, and genetics. Review articles, case reports and cross-sectional studies were included. Results: Overall, 90 articles relating to the risk factors involved in the development of gastroschisis and 23 articles relating to gastroschisis and genetics were reviewed. Gastroschisis occurring in siblings is rare, and there are only 14 cases of familial gastroschisis published in the literature. Several epidemiological studies have identified complex interactions between environmental factors and multiple genes. Conclusion: Gastroschisis is an infrequent event of uncertain aetiology. This condition continues to be an epidemiological and pathogenic dilemma. Additional research is required to elucidate the multifactorial aetiology of gastroschisis.