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OEIS complex--a population study
K Källén1, E E Castilla, E Robert
1Tornblad Institute, University of Lund, Lund, Sweden. Karin.Kallen@anatom.lu.se
Insights
The OEIS complex (omphalocele, bladder exstrophy, imperforate anus, spine defect) is a clearly defined group of infant malformations. This study confirms its existence and highlights associations with spina bifida and intersex conditions.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Surgery
Background:
- Infants with multiple congenital malformations often exhibit nonrandom patterns of co-occurrence.
- The OEIS complex (omphalocele, bladder exstrophy, imperforate anus, spine defect) is a recognized but not fully characterized association.
Purpose of the Study:
- To investigate the OEIS complex using a novel analytical method.
- To define the malformations associated with the OEIS complex and assess their prevalence.
Main Methods:
- Analysis of 5,260 infants with multiple malformations from four large congenital malformation registers.
- Utilized a novel analytical approach to identify and define malformation clusters.
Main Results:
- Confirmed the existence of the OEIS complex as a distinct entity.
- Demonstrated strong associations with spina bifida (including upper spine defects) and intersex conditions.
- No significant association found with cardiac defects or other malformations outside the complex.
Conclusions:
- The OEIS complex is a well-defined congenital anomaly group.
- Spina bifida and intersex conditions are key associated findings, extending beyond the classical OEIS components.
Abstract:
Using a novel method for the analysis of infants with multiple malformations, we investigated the cluster of associated malformations called the OEIS (omphalocele, bladder exstrophy, imperforate anus, spine defect) complex among 5,260 infants with multiple malformations identified in four large registers of congenital malformations, corresponding to 5.84 million births. The existence of the OEIS complex was clearly demonstrated and malformations entering it could be defined. Other than the four classical malformations, omphalocele, bladder exstrophy, imperforate anus, and spine malformation, a strong association with spina bifida and intersex was stressed. Spine malformations occurred not only in the lumbosacral level but also more cranially, and an association also with upper spina bifida could be demonstrated. No specific association with any other malformation, including cardiac defects, was apparent. The OEIS complex is an unusually clearly defined entity among the various nonrandom associations which have been described.