Exomphalos (Omphalocele)

Kilby, Mark; Lander, Anthony; Usher-Somers, Marguerite

doi:10.1002/(sici)1097-0223(199812)18:12<1283::aid-pd480>3.0.co;2-4

Cited by 29 publications

(14 citation statements)

References 31 publications

(37 reference statements)

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“…An omphalocele, for instance, affects the junction between the surface ectoderm and the amnion and is caused by defective development of the anterior abdominal wall and failed umbilical ring closure (16). Interestingly, an omphalocele has also been observed in mice deficient for AP-2␣ (35).…”

Section: Vol 24 2004mentioning

confidence: 99%

“…Congenital heart defects, for instance, occur in 1 of every 150 newborns, with ventricular septation defects diagnosed in 1 in 800 newborns and outflow tract malformations such as persistent truncus arteriosus exhibiting frequencies of 1 in 10,000 (2). Omphalocele, on the other hand, affects approximately 1 in 3,500 children (16). Frequencies of cleft lip range from 1 in 300 to 1 in 2,500 (with or without cleft palate), whereas isolated cleft palate is found in approximately 1 in 1,500 newborns (33).…”

Section: Vol 24 2004mentioning

confidence: 99%

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Gene Targeting Reveals a Widespread Role for the High-Mobility-Group Transcription Factor Sox11 in Tissue Remodeling

Sock¹,

Rettig²,

Enderich³

et al. 2004

Molecular and Cellular Biology

245

255

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The high-mobility-group domain-containing transcription factor Sox11 is expressed transiently during embryonic development in many tissues that undergo inductive remodeling. Here we have analyzed the function of Sox11 by gene deletion in the mouse. Sox11-deficient mice died at birth from congenital cyanosis, likely resulting from heart defects. These included ventricular septation defects and outflow tract malformations that ranged from arterial common trunk to a condition known as double outlet right ventricle. Many other organs that normally express Sox11 also exhibited severe developmental defects. We observed various craniofacial and skeletal malformations, asplenia, and hypoplasia of the lung, stomach, and pancreas. Eyelids and the abdominal wall did not close properly in some Sox11-deficient mice. This phenotype suggests a prime function for Sox11 in tissue remodeling and identifies SOX11 as a potentially mutated gene in corresponding human malformation syndromes.Transcription factors of the Sox protein family are characterized by the possession of a subtype of high-mobility-group domain which allows sequence-specific binding to the minor groove of DNA (31). This domain was first identified in Sry, the prototypic family member involved in male sex determination. Over the last few years, many Sox proteins have been shown to be involved as regulators in diverse developmental processes ranging from epiblast formation to the terminal differentiation of certain cell types (3, 31).The 20 Sox proteins which have been identified in mammals can be further subdivided into eight groups (groups A to H) according to their degrees of similarity both within and outside the high-mobility-group domain. Mammalian group C, for instance, consists of the three highly related proteins Sox4, Sox11, and Sox22. Sox4 has been studied extensively in vivo and has been shown to be essential for pro-B-cell expansion and for the formation of semilunar valves and of the outflow tract from the endocardial ridges of the heart (25). Further nonessential roles for Sox4 have been defined in thymocyte differentiation (24).Much less is known about the biological role of Sox11 and Sox22. Species in which Sox11 has been identified include humans, mice, rats, chickens, Xenopus laevis, and zebra fish (11,14,15,17,21,22,30). Sox11 functions as a strong transcriptional activator in tissue culture systems and possesses a transactivation domain at its extreme carboxy terminus with a high level of homology to the corresponding region of Sox4 (17).The expression of Sox11 has also been studied in several species. In zebra fish, in which two Sox11 orthologs exist because of the recent whole-genome duplication in teleosts, Sox11 transcripts are maternally inherited (22). In all species analyzed, Sox11 is present during gastrulation and early postgastrulation development throughout the embryo, with the notable exception of the heart (14,17,22). Later during development, Sox11 is prominently expressed in the developing nervous system in both glial and neurona...

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Section: Vol 24 2004mentioning

confidence: 99%

Section: Vol 24 2004mentioning

confidence: 99%

Gene Targeting Reveals a Widespread Role for the High-Mobility-Group Transcription Factor Sox11 in Tissue Remodeling

Sock¹,

Rettig²,

Enderich³

et al. 2004

Molecular and Cellular Biology

245

255

View full text Add to dashboard Cite

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“…This omphalocele sac consists of amnion, peritoneum and so-called Wharton's jelly. The umbilicus inserts into the sac [2,24,26]. There is almost always intestinal involvement, but other organs can also prolapse [7,8,26].…”

Section: Introductionmentioning

confidence: 99%

“…Problems result from the cardiac, neurological, skeletal or urogenital anomalies, and are rarely attributable to the omphalocele alone [16,24,26]. Children with chromosomal defects such as trisomy have a higher complication rate and a poor or fatal outcome.…”

Section: Introductionmentioning

confidence: 99%

Gastroschisis and omphalocele: treatments and long-term outcomes

et al. 2007

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Between February 1994 and April 2004, we treated 40 children with gastroschisis and 26 children with omphalocele. We recorded the course of pregnancy, pre- and post-natal complications, delivery, operation, post-operative therapy, and long-term outcomes. Additionally, we conducted follow-up examinations of 37 of these 66 children (56%). We analysed their abdominal musculature, development, cosmetic result and quality of life. The median duration of follow-up was 6.3 years (range 1-10). In 35/40 children (88%) with gastroschisis and in 18/26 children (69%) with omphalocele, there had been prenatal diagnosis. The average maternal age of 23.9 years in the gastroschisis group was lower than in the omphalocele group (29.9 years). Delivery was by caesarean section in 93% of the gastroschisis group and 65% of the omphalocele group. Outcomes following vaginal delivery were no worse than those after caesarean section. Further, congenital abnormalities were shown in 28% of gastroschisis cases, and were limited to the gastrointestinal tract. Of the omphalocele cases 81% showed further abnormalities. Direct closure of the abdominal wall defect was possible in 31/40 (78%) of the gastroschisis cases and 15/26 (58%) of the omphalocele cases. Mortality in gastroschisis was nil; two children with omphalocele died (8%). Outcomes were better after primary closure than in stepwise reconstruction. Follow-up showed good results in all categories. Developmental delays were rapidly made up after treatment, and 75% of the children had no gastrointestinal problems, or suffered from these rarely. Almost all the children were of normal weight and height, and physical and intellectual development were delayed in only one third of the children. The surgical scar was rated as good or very good in about 80% of the cases. Except for those with severe defects, the children had good ratings for quality of life. Improvements in short-term results of gastroschisis and omphalocele treatment can be attributed to recent developments in prenatal diagnosis and the advancements of centralised perinatal care. Our long-term results clearly demonstrate that initial gastrointestinal problems and developmental delays were made up during the first two years of life. Prenatal counselling can now be more optimistic.

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“…The exact etiology of these anomalies is unknown. Unlike gastroschisis, the prolapsed organs in omphalocele are covered with a protective sac [6,7]. Maternal age tends to vary at the extremes of the spectrum in omphalocele with the risk of very young and more advanced maternal age.…”

Section: Discussionmentioning

confidence: 99%

The Prognosis of Gastroschisis and Omphalocele

Jwa

Kim

et al. 2014

J Korean Assoc Pediatr Surg

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Purpose: Gastroschisis and omphalocele are major anterior abdominal wall defects. The purpose of this study was to analyze the clinical differences and mortalities of gastroschisis and omphalocele in Asan Medical Center. Methods: A retrospective review of the medical records was conducted of 103 cases of gastroschisis and omphalocele from September 1989 to February 2013 in Asan Medical Center in Korea. Results: There were 43 cases (41.7%) of gastroschisis and 60 cases (58.3%) of omphalocele. There was a female predominance in both gastroschisis (60.5%) and omphalocele (58.3%). The average gestational age at delivery was 36.7±0.4 weeks for both groups. The mean birth weights were 2,381.9±80.6 g for gastroschisis and 2,779.4±82.8 g for omphalocele (p=0.001). Mean maternal ages in the gastroschisis and omphalocele groups were 27.5±0.7 years and 30.5±0.7 years, respectively (p=0.002). Associated malformations were documented in 13 infants (30.2%) with gastroschisis and 46 infants (76.7%) with omphalocele (p<0.001). All of gastroschisis patients except one underwent surgery including 31 primary repairs and 11 staged repairs. Fifty-two infants with omphalocele underwent surgery−primary repair in 41 infants and staged repair in 11 infants. Among 103 cases, 19 cases (18.4%) expired. Mortality rates of gastroschisis and omphalocele were 23.3% (10/43 cases) and 15.0% (9/60 cases), respectively (p=0.287). The main causes of death were abdominal compartment syndrome (6/10 cases) in gastroschisis, respiratory failure (4/9 cases) and discharge against medical advice (4/9 cases) in omphalocele. Conclusion: Gastroschisisis was associated with younger maternal age and lower birth weight than omphalocele. Associated malformations were more common in omphalocele. The mortality rates did not make a statistical significance. This might be the improvement of treatment of cardiac anomalies, because no patient died from cardiac dysfunction in our study. Furthermore, abdominal compartment syndrome might be the main cause of death in gastroschisis.

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Exomphalos (Omphalocele)

Cited by 29 publications

References 31 publications

Gene Targeting Reveals a Widespread Role for the High-Mobility-Group Transcription Factor Sox11 in Tissue Remodeling

Gene Targeting Reveals a Widespread Role for the High-Mobility-Group Transcription Factor Sox11 in Tissue Remodeling

Gastroschisis and omphalocele: treatments and long-term outcomes

The Prognosis of Gastroschisis and Omphalocele

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