Omphalocele

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Omphalocele
Diseases of infancy and childhood (1914) (14771602612).jpg
Infant before and after surgical treatment for exomphalos.
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg
Symptoms Visible organs
Usual onsetCongenital
TreatmentSurgical repair
Prognosis varies- see below

Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. [1] Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. [2] [3] Persistence of intestine or the presence of other abdominal viscera (e.g. stomach, liver) in the umbilical cord results in an omphalocele.

Contents

Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities.

Signs and symptoms

The sac, which is formed from an outpouching of the peritoneum, protrudes in the midline, through the umbilicus (navel).[ citation needed ]

It is normal for the intestines to protrude from the abdomen, into the umbilical cord, until about the tenth week of pregnancy, after which they return to inside the fetal abdomen. The omphalocele can be mild, with only a small loop of intestines present outside the abdomen, or severe, containing most of the abdominal organs. In severe cases surgical treatment is made more difficult because the infant's abdomen is abnormally small, having had no need to expand to accommodate the developing organs.

Larger omphaloceles are associated with a higher risk of cardiac defects. [4]

Complications

Complications may occur prenatally, during birth, management, treatment or after surgery. Both prenatally and during birth, the exomphalos can rupture. During birth there may be trauma to the liver for giant omphaloceles. During management exomphalos can act as a metabolic drain affecting nitrogen balance which can lead to failure to thrive, as well as hypothermia. [5] [6] Use of a non-absorbent patch during surgery can lead to wound sepsis post-surgery. Herniation from the patch is also a possibility. [7] Intestinal dysfunction for a few weeks after the surgery is common, therefore parenteral feeding is continued post-surgery, however prolonged use of this may lead to hepatomegaly and cholestasis. If intestinal dysfunction persists it can lead to intestinal necrosis. [8] Intestinal atresia can occur, which is where the mucosa and submucosa of the intestine form a web that obstructs the lumen which leads to malabsorption. Obstruction of the bowel can occur which results in short bowel syndrome. For the first few years of life there is a high incidence of gastroesophageal reflux which can be complicated by oesophagitis. [6]

Post-surgery the umbilicus (navel) is deficient or abnormally placed that causes dislike amongst many patients. Umbilical reconstruction can be difficult due to scar tissue and lack of extra skin for surgical use, though this can be overcome by using tissue expanders below the skin and umbilicoplasty. [9]

Ultimately, prognosis depends on the size of the defect and whether associated abnormalities are present or complications develop. Mortalities and morbidities still occur, with the mortality rate for large omphaloceles with associated abnormalities being higher. Most surviving omphalocele infants have no-long-term problems and grow up to be normal individuals. [10]

Omphalocele awareness ribbon Omphalocele awareness ribbon.png
Omphalocele awareness ribbon

Causes

Diagram showing the process by which the intestine rotates and herniates during normal development. From panel A to B (left-sided views), the midgut loop rotates 90deg in a counterclockwise direction, so that its position changes from midsagittal (A) to transverse (B1). The small intestine forms loops (B2) and slides back into the abdomen (B3) during resolution of the hernia. Meanwhile, the cecum moves from the left to the right side, which represents the additional 180deg counterclockwise rotation of the intestine (C, central view). Intestinal rotation and herniation.png
Diagram showing the process by which the intestine rotates and herniates during normal development. From panel A to B (left-sided views), the midgut loop rotates 90° in a counterclockwise direction, so that its position changes from midsagittal (A) to transverse (B1). The small intestine forms loops (B2) and slides back into the abdomen (B3) during resolution of the hernia. Meanwhile, the cecum moves from the left to the right side, which represents the additional 180° counterclockwise rotation of the intestine (C, central view).

Omphalocele is caused by malrotation of the bowels while returning to the abdomen during development. Some cases of omphalocele are believed to be due to an underlying genetic disorder, such as Edward's syndrome (trisomy 18) [12] [13] or Patau syndrome (trisomy 13).

Beckwith–Wiedemann syndrome is also associated with omphaloceles.[ citation needed ]

Pathophysiology

Exomphalos is caused by a failure of the ventral body wall to form and close the naturally occurring umbilical hernia that occurs during embryonic folding which is a process of embryogenesis. [14] The normal process of embryogenesis is that at 2 weeks gestation the human embryo is a flat disc that consists of three layers, the outer ectoderm and inner endoderm separated by a middle layer called the mesoderm. The ectoderm gives rise to skin and the CNS, the mesoderm gives rise to muscle and the endoderm gives rise to organs. The focus areas for exomphalos are that the ectoderm will form the umbilical ring, the mesoderm will form the abdominal muscles and the endoderm will form the gut. After the disc becomes tri-layered, it undergoes growth and folding to transform it from disc to cylinder shaped. The layer of ectoderm and mesoderm in the dorsal axis grow ventrally to meet at the midline. Simultaneously, the cephalic (head) and caudal (tail) ends of these layers of the disc fold ventrally to meet the lateral folds in the center. The meeting of both axis at the center form the umbilical ring. Meanwhile, the endoderm migrates to the center of this cylinder.[ citation needed ]

By the fourth week of gestation the umbilical ring is formed. During the 6th week the midgut rapidly grows from the endoderm which causes a herniation of the gut through the umbilical ring. The gut rotates as it re-enters the abdominal cavity which allows for the small intestine and colon to migrate to their correct anatomical position by the end of the 10th week of development. This process fails to occur normally in cases of exomphalos, resulting in abdominal contents protruding from the umbilical ring. [7] [15] [16]

Gut contents fail to return to the abdomen due to a fault in myogenesis (muscle formation and migration during embryogenesis). During embryogenesis the mesoderm that forms muscle divides into several somites that migrate dorso-ventrally towards the midline. The somites develop three parts that are sclerotome which will form bone, dermatome which will form skin of the back and myotome which will form muscle. The somites that remain close to the neural tube at the back of the body have epaxial myotome, whilst the somites that migrate to the midline have hypaxial myotome. The hypaxial myotome forms the abdominal muscles. The myotome cells will give rise to myoblasts (embryonic progenitor cells) which will align to form myotubules and then muscle fibers. Consequently, the myotome will become three muscle sheets that form the layers of abdominal wall muscles. The muscle of concern for exomphalos is the rectus abdominis. In the disease the muscle undergoes normal differentiation but fails to expand ventro-medially and narrow the umbilical ring which causes the natural umbilical hernia that occurs at 6 weeks of gestation to remain external to the body. [14]

The location of the folding defect in the embryo determines the ultimate position of the exomphalos. A cephalic folding defect results in an epigastric exomphalos that is positioned high up on the abdomen which can be seen in the chromosomal defect pentalogy of Cantrell. Lateral folding defects result in a typical exomphalos that is positioned in the middle of the abdomen. A caudal folding defect results in a hypogastric exomphalos that is positioned on the lower abdomen. [6]

Genetics

The genes that cause exomphalos are controversial and subject to research. Exomphalos is greatly associated with chromosomal defects and thus these are being explored to pinpoint the genetic cause of the disease. Studies in mice have indicated that mutations in the fibroblast growth factor receptors 1 and 2 (Fgfr1, Fgfr2) cause exomphalos. [14] Fibroblast growth factor (FBGF) encourages the migration of myotubules during myogenesis. When FBGF runs out myoblasts stop migrating, cease division and differentiate into myotubules that form muscle fibers. Mutations in homeobox genes such as Alx4, that direct the formation of body structures during early embryonic development cause exomphalos in mice. [17] Mutations in the Insulin like growth factor-2 gene ( IGF2 ) and its associated receptor gene IGF2R cause high levels of IGF-2 protein in humans which leads to exomphalos in the associated disease Beckwith Wiedemann syndrome (BWS). IFG2R is responsible for degradation of excess IGF-2 protein. BWS disease is caused by a mutation in chromosome 11 at the locus where the IGF2 gene resides. [18] Observance of the inheritance patterns of the associated anomalies through pedigrees show that exomphalos can be the result of autosomal dominant, autosomal recessive and X-linked inheritance. [6]

Environmental factors

It is not well known if actions of the mother could predispose or cause the disease. Alcohol use during the first trimester, heavy smoking, use of certain medications like the selective serotonin-reuptake inhibitors and methimazole (anti-thyroid drug) during pregnancy, maternal febrile illness, IVF, parental consanguinity and obesity elevate the risk of a woman giving birth to a baby with exomphalos. [6] [19] Preventive methods that could be utilised by mothers include ingestion of a preconception multivitamin and supplementation with folic acid. Termination of pregnancy may be considered if a large exomphalos with associated congenital abnormalities is confirmed during prenatal diagnosis. [6]

Diagnosis

Gastroschisis is a similar birth defect, but in gastroschisis the umbilical cord is not involved and the intestinal protrusion is usually to the right of the midline. Parts of organs may be free in the amniotic fluid and not enclosed in a membranous (peritoneal) sac. Gastroschisis is less frequently associated with other defects than omphalocele.[ citation needed ]

Omphaloceles occurs more frequently with increased maternal age. Other related syndromes are Shprintzen Goldberg, pentalogy of Cantrell, Beckwith–Wiedemann and OEIS complex (omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects).[ citation needed ]

After surgery a child with omphalocele will have some degree of intestinal malrotation. Due to intestinal malrotation 4.4% of children with omphalocele will experience a midgut volvulus in the days, months, or years after surgery. Parents of children with omphalocele should seek immediate medical attention if their child displays signs and symptoms of an intestinal obstruction at any point in their childhood to avoid the possibility of bowel necrosis or death. [20]

Some experts differentiate exomphalos and omphalocele as 2 related conditions, one worse than the other; in this sense, exomphalos involves a stronger covering of the hernia (with fascia and skin), whereas omphalocele involves a weaker covering of only a thin membrane. Others consider the terms synonymous names for any degree of herniation and covering.[ citation needed ]

Screening

An omphalocele is often detected through AFP screening or a detailed fetal ultrasound. Genetic counseling and genetic testing such as amniocentesis are usually offered during the pregnancy.[ citation needed ]

Management

There is no treatment that is required prenatally unless there is a rupture of the exomphalos within the mother. An intact exomphalos can be delivered safely vaginally and C-sections are also acceptable if obstetrical reasons require it. [16] There appears to be no advantage for delivery by C-section unless it is for a giant exomphalos that contains most of the liver. In this case vaginal delivery may result in dystocia (inability of the baby to exit the pelvis during birth) and liver damage. [6] Immediately after birth a nasogastric tube is required to decompress the intestines and an endotracheal intubation is needed to support respiration. The exomphalos sac is kept warm and covered with a moist saline gauze and plastic transparent bowel bag to prevent fluid loss. The neonate also requires fluid, vitamin K and antibiotic administration intravenously. [7] [15] After management strategies are applied, a baby with an intact sac is medically stable and does not require urgent surgery. This time is used to assess the newborn to rule out associated anomalies prior to surgical closure of the defect. [6] Studies show there is no significant difference in survival between immediate or delayed closure. [21]

Surgery can be performed directly for small omphaloceles, which will require a short stay in the nursery department, or in a staged manner for large omphaloceles, which will require several weeks stay. Staged closure requires a temporary artificial holding sac (a silo) to be placed over the abdominal organs and sutured to the abdominal wall. This can be made of non-adhesive dressing. The silo is gradually reduced in size at least once daily until all of the viscera have been returned to the abdominal cavity. This is repeated for several days to a week until surgical closure of the fascia/skin can be done. Closure may require a patch that can be rigid or non-rigid and made of natural biomaterials such as a bovine pericardium or artificial materials. The skin is then closed over the patch and it is re-vascularised by the body's liver blood vessels post-surgery. [22] [8] [7] The staged surgery is required, as rushed reduction of the exomphalos compromises venous return and ventilation, as it raises intra-abdominal pressure. [9] In some cases, stretching of the abdominal wall to accommodate intestinal contents may be required. [7] [6] Non-operative therapy uses escharotic ointments. This is used for infants with large omphaloceles that have been born prematurely with respiratory insufficiency and associated chromosomal defects, as they would not be able to tolerate surgery. The ointment causes the sac to granulate and epithelialize, which leaves a residual large ventral hernia, which can be repaired later with surgery when the baby is more stable. [7] [15] [9] After surgery, for larger omphaloceles, mechanical ventilation and parenteral nutrition is needed to manage the baby. [7]

Society and culture

Awareness Day

International Omphalocele Awareness Day is celebrated annually in the US on January 31, as part of Birth Defect Awareness Month. Several U.S. states have passed resolutions to officially recognize the date. [23] [24] [25] [26] [27]

Related Research Articles

<span class="mw-page-title-main">Hernia</span> Abnormal exit of tissues or organs from the cavity they usually reside in

A hernia is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the intestinal tract, referring to the retraction of the intestine from the extra-embryonal navel coelom into the abdomen in the healthy embryo at about 7½ weeks. Various types of hernias can occur, most commonly involving the abdomen, and specifically the groin. Groin hernias are most commonly inguinal hernias but may also be femoral hernias. Other types of hernias include hiatus, incisional, and umbilical hernias. Symptoms are present in about 66% of people with groin hernias. This may include pain or discomfort in the lower abdomen, especially with coughing, exercise, or urinating or defecating. Often, it gets worse throughout the day and improves when lying down. A bulge may appear at the site of hernia, that becomes larger when bending down. Groin hernias occur more often on the right than left side. The main concern is bowel strangulation, where the blood supply to part of the bowel is blocked. This usually produces severe pain and tenderness in the area. Hiatus, or hiatal hernias often result in heartburn but may also cause chest pain or pain while eating.

<span class="mw-page-title-main">Prune belly syndrome</span> Medical condition

Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often present on the abdomen of those with the disorder.

<span class="mw-page-title-main">Hirschsprung's disease</span> Medical condition

Hirschsprung's disease is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung's disease are diagnosed in the first year of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.

Cloacal exstrophy (EC) is a severe birth defect wherein much of the abdominal organs are exposed. It often causes the splitting of the bladder, genitalia, and the anus. It is sometimes called OEIS complex.

<span class="mw-page-title-main">Beckwith–Wiedemann syndrome</span> Genetic overgrowth disorder

Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents of an affected child may be at increased risk of having other children with BWS. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully.

<span class="mw-page-title-main">Gastroschisis</span> Defect resulting in visible intestines

Gastroschisis is a birth defect in which the baby's intestines extend outside of the abdomen through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. Complications may include feeding problems, prematurity, intestinal atresia, and intrauterine growth restriction.

<span class="mw-page-title-main">Sirenomelia</span> Rare congenital deformity in which the legs are fused together

Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname.

<span class="mw-page-title-main">Pediatric surgery</span> Medical subspecialty of surgery performed by pediatrics

Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.

<span class="mw-page-title-main">Volvulus</span> Twisting of part of the intestine, causing a bowel obstruction

A volvulus is when a loop of intestine twists around itself and the mesentery that supports it, resulting in a bowel obstruction. Symptoms include abdominal pain, abdominal bloating, vomiting, constipation, and bloody stool. Onset of symptoms may be rapid or more gradual. The mesentery may become so tightly twisted that blood flow to part of the intestine is cut off, resulting in ischemic bowel. In this situation there may be fever or significant pain when the abdomen is touched.

Intestinal malrotation is a congenital anomaly of rotation of the midgut. It occurs during the first trimester as the fetal gut undergoes a complex series of growth and development. Malrotation can lead to a dangerous complication called volvulus. Malrotation can refer to a spectrum of abnormal intestinal positioning, often including:

<span class="mw-page-title-main">Umbilical hernia</span> Medical condition

An umbilical hernia is a health condition where the abdominal wall behind the navel is damaged. It may cause the navel to bulge outwards—the bulge consisting of abdominal fat from the greater omentum or occasionally parts of the small intestine. The bulge can often be pressed back through the hole in the abdominal wall, and may "pop out" when coughing or otherwise acting to increase intra-abdominal pressure. Treatment is surgical, and surgery may be performed for cosmetic as well as health-related reasons.

<span class="mw-page-title-main">Simpson–Golabi–Behmel syndrome</span> Congenital disorder

Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with sgbs which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.

<span class="mw-page-title-main">Spigelian hernia</span> Surgical condition

A Spigelian is the type of ventral hernia where aponeurotic fascia pushes through a hole in the junction of the linea semilunaris and the arcuate line creating a bulge. It appears in the abdomen lower quadrant between an area of dense fibrous tissue and abdominal wall muscles causing a.

Amyoplasia is a condition characterized by a generalized lack in the newborn of muscular development and growth, with contracture and deformity that affect at least two joints. It is the most common form of arthrogryposis.

<span class="mw-page-title-main">Intestinal atresia</span> Medical condition

Intestinal atresia is any congenital malformation of the structure of the intestine that causes bowel obstruction. The malformation can be a narrowing (stenosis), absence or malrotation of a portion of the intestine. These defects can either occur in the small or large intestine.

<span class="mw-page-title-main">Duodenal atresia</span> Medical condition

Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during pregnancy (polyhydramnios) and intestinal obstruction in newborn babies. Newborns present with bilious or non-bilous vomiting within the first 24 to 48 hours after birth, typically after their first oral feeding. Radiography shows a distended stomach and distended duodenum, which are separated by the pyloric valve, a finding described as the double-bubble sign.

<span class="mw-page-title-main">Pulmonary hypoplasia</span> Congenital disorder of respiratory system

Pulmonary hypoplasia is incomplete development of the lungs, resulting in an abnormally low number or small size of bronchopulmonary segments or alveoli. A congenital malformation, it most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs. Primary (idiopathic) pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities.

<span class="mw-page-title-main">Donnai–Barrow syndrome</span> Medical condition

Donnai–Barrow syndrome is a genetic disorder first described by Dian Donnai and Margaret Barrow in 1993. It is associated with LRP2. It is an inherited (genetic) disorder that affects many parts of the body.

Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen.

The development of the digestive system in the human embryo concerns the epithelium of the digestive system and the parenchyma of its derivatives, which originate from the endoderm. Connective tissue, muscular components, and peritoneal components originate in the mesoderm. Different regions of the gut tube such as the esophagus, stomach, duodenum, etc. are specified by a retinoic acid gradient that causes transcription factors unique to each region to be expressed. Differentiation of the gut and its derivatives depends upon reciprocal interactions between the gut endoderm and its surrounding mesoderm. Hox genes in the mesoderm are induced by a Hedgehog signaling pathway secreted by gut endoderm and regulate the craniocaudal organization of the gut and its derivatives. The gut system extends from the oropharyngeal membrane to the cloacal membrane and is divided into the foregut, midgut, and hindgut.

References

  1. ↑ CDC (2019-12-05). "Facts about Omphalocele | CDC". Centers for Disease Control and Prevention. Retrieved 2020-12-20.
  2. ↑ Mann, Stephanie; Blinman, Thane A.; Douglas Wilson, R. (July 2008). "Prenatal and postnatal management of omphalocele". Prenatal Diagnosis. 28 (7): 626–632. doi:10.1002/pd.2008. ISSN   0197-3851. PMID   18634119. S2CID   206345744.
  3. ↑ Blaas, H.-G.; Eik‐Nes, S. H.; Kiserud, T.; Hellevik, L. R. (1995). "Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study". Ultrasound in Obstetrics & Gynecology. 6 (4): 240–249. doi: 10.1046/j.1469-0705.1995.06040240.x . ISSN   1469-0705. PMID   8590186. S2CID   22318659.
  4. ↑ Kumar HR, Jester AL, Ladd AP (December 2008). "Impact of omphalocele size on associated conditions". Journal of Pediatric Surgery. 43 (12): 2216–9. doi:10.1016/j.jpedsurg.2008.08.050. PMID   19040938.
  5. ↑ Danzer E, Victoria T, Bebbington MW, Siegle J, Rintoul NE, Johnson MP, et al. (2011). "Fetal MRI-calculated total lung volumes in the prediction of short-term outcome in giant omphalocele: preliminary findings". Fetal Diagnosis and Therapy. 31 (4): 248–53. doi:10.1159/000334284. PMID   22572017. S2CID   5148665.
  6. 1 2 3 4 5 6 7 8 9 Wilson RD, Johnson MP (2004). "Congenital abdominal wall defects: an update". Fetal Diagnosis and Therapy. 19 (5): 385–98. doi:10.1159/000078990. PMID   15305094. S2CID   10637754.
  7. 1 2 3 4 5 6 7 Aspelund G, Langer JC (2006). "Abdominal wall defects". Current Paediatrics. 16 (3): 192–198. doi:10.1016/j.cupe.2006.03.005.
  8. 1 2 Schnur J, Dolgin S, Vohra N, Soffer S, Glick R (February 2008). "Pitfalls in prenatal diagnosis of unusual congenital abdominal wall defects". The Journal of Maternal-Fetal & Neonatal Medicine. 21 (2): 135–9. doi:10.1080/14767050701885872. PMID   18240083. S2CID   22338420.
  9. 1 2 3 Abhyankar A (2004). "Umbilical disorders". Surgery. 22 (9): 214–217. doi:10.1383/surg.22.9.214.50245.
  10. ↑ Mitanchez D, Walter-Nicolet E, Humblot A, Rousseau V, Revillon Y, Hubert P (August 2010). "Neonatal care in patients with giant ompholocele: arduous management but favorable outcomes". Journal of Pediatric Surgery. 45 (8): 1727–33. doi:10.1016/j.jpedsurg.2010.04.011. PMID   20713230.
  11. ↑ Soffers JH, Hikspoors JP, Mekonen HK, Koehler SE, Lamers WH (August 2015). "The growth pattern of the human intestine and its mesentery". BMC Developmental Biology. 15 (1): 31. doi: 10.1186/s12861-015-0081-x . PMC   4546136 . PMID   26297675.
  12. ↑ Kanagawa SL, Begleiter ML, Ostlie DJ, Holcomb G, Drake W, Butler MG (March 2002). "Omphalocele in three generations with autosomal dominant transmission". Journal of Medical Genetics. 39 (3): 184–5. doi:10.1136/jmg.39.3.184. PMC   1735073 . PMID   11897819.
  13. ↑ Yatsenko SA, Mendoza-Londono R, Belmont JW, Shaffer LG (November 2003). "Omphalocele in trisomy 3q: further delineation of phenotype". Clinical Genetics. 64 (5): 404–13. doi:10.1034/j.1399-0004.2003.00159.x. PMID   14616763. S2CID   10786385.
  14. 1 2 3 Nichol PF, Corliss RF, Tyrrell JD, Graham B, Reeder A, Saijoh Y (January 2011). "Conditional mutation of fibroblast growth factor receptors 1 and 2 results in an omphalocele in mice associated with disruptions in ventral body wall muscle formation". Journal of Pediatric Surgery. 46 (1): 90–6. doi:10.1016/j.jpedsurg.2010.09.066. PMC   3979308 . PMID   21238647.
  15. 1 2 3 Townsend C (2017). Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practic (20th ed.). Philadelphia: Elsevier Saunders.
  16. 1 2 Lander A (2007). "Defects of the anterior abdominal wall: exomphalos and gastroschisis". Surgery. 25 (7): 295–297. doi:10.1016/j.mpsur.2007.05.014.
  17. ↑ Carnaghan H, Roberts T, Savery D, Norris FC, McCann CJ, Copp AJ, et al. (October 2013). "Novel exomphalos genetic mouse model: the importance of accurate phenotypic classification". Journal of Pediatric Surgery. 48 (10): 2036–42. doi:10.1016/j.jpedsurg.2013.04.010. PMC   4030649 . PMID   24094954.
  18. ↑ Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A (December 1997). "Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes". Genes & Development. 11 (23): 3128–42. doi:10.1101/gad.11.23.3128. PMC   316748 . PMID   9389646.
  19. ↑ Ono K, Kikuchi A, Takikawa KM, Hiroma T, Yoshizawa K, Sunagawa S, et al. (2009). "Hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct: prenatal ultrasound and MRI findings". Fetal Diagnosis and Therapy. 25 (1): 72–5. doi:10.1159/000200633. PMID   19202342. S2CID   35755449.
  20. ↑ Fawley JA, Abdelhafeez AH, Schultz JA, Ertl A, Cassidy LD, Peter SS, Wagner AJ (January 2017). "The risk of midgut volvulus in patients with abdominal wall defects: A multi-institutional study". Journal of Pediatric Surgery. 52 (1): 26–29. doi:10.1016/j.jpedsurg.2016.10.014. PMID   27847120.
  21. ↑ Mortellaro VE, St Peter SD, Fike FB, Islam S (April 2011). "Review of the evidence on the closure of abdominal wall defects". Pediatric Surgery International. 27 (4): 391–7. doi:10.1007/s00383-010-2803-2. PMID   21161242. S2CID   26451209.
  22. ↑ Mann S, Blinman TA, Douglas Wilson R (July 2008). "Prenatal and postnatal management of omphalocele". Prenatal Diagnosis. 28 (7): 626–32. doi:10.1002/pd.2008. PMID   18634119. S2CID   206345744.
  23. ↑ "House Resolution 1006" (PDF). State of Arkansas.
  24. ↑ "Senate Resolution 56". State of California.
  25. ↑ "House Resolution". State of Georgia.
  26. ↑ "House Resolution 0209". State of Michigan.[ permanent dead link ]
  27. ↑ "Legislative Resolution 21" (PDF). State of Nebraska.
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