19 Questions
What is the characteristic of an Omphalocele?
A central abdominal wall defect larger than 4 cm at the umbilicus
What is the difference between Omphalocele and Gastroschisis?
The size of the defect, with Omphalocele being larger than 4 cm
What organs are usually found in an Omphalocele?
The liver, midgut, spleen, and one or both gonads
What is the location of an Omphalocele?
At the umbilicus
What is the characteristic of the membrane or sac in an Omphalocele?
It is thin and transparent
What is the location of the proximal end of the esophagus in relation to the azygos vein?
At the level of the azygos vein
What is the typical length of the distal esophagus?
Short and often suspended by a fibrotic band
What is the typical location of an H-type fistula?
Thoracic aperture or higher in the neck
What is the incidence of esophageal atresia with proximal fistula?
2%
What is the characteristic of the diameter of the fistula in esophageal atresia with proximal fistula?
Variable, from tiny to large
How many proximal fistulas are usually found in esophageal atresia with proximal fistula?
Two or three
What is the approximate incidence of esophageal atresia (EA) with tracheoesophageal fistula (TEF)?
1 in 2500–3000 live births
What is the main reason for the abnormal connection between the trachea and esophagus?
Incomplete fusion of the lateral tracheoesophageal folds
What is the name of the association that includes vertebral, anorectal, cardiac, tracheo-esophageal, renal, and limb abnormalities?
VACTERL association
What percentage of patients with EA/TEF have chromosomal anomalies?
6-10%
What is the name of the classification of EA where the proximal and distal esophagus end blindly?
Pure esophageal atresia without TEF
What is the approximate incidence of pure esophageal atresia without TEF?
7%
What is the risk of a second child with EA/TEF among parents of one affected child?
0.5-2%
At what level does the distal esophagus enter the trachea in esophageal atresia with distal fistula?
At the level of the carina or 1-2 cm higher
Study Notes
Congenital Abdominal Wall Defects
- Omphalocele is a central abdominal wall defect, larger than 4 cm, located at the umbilicus.
- Omphalocele is always covered by a thin membrane or sac.
- Omphalocele usually contains the liver, midgut, and may contain other organs such as the spleen, and one or both gonads.
Gastroschisis
- Gastroschisis is a small defect.
Embryology of Esophageal Atresia (EA)
- During the 4th week of gestation, the foregut differentiates into a ventral respiratory part and a dorsal esophageal part.
- Incomplete fusion of lateral tracheoesophageal folds results in a defective tracheoesophageal septum and abnormal connection between the trachea and esophagus.
Incidence of EA and Tracheo-Esophageal Fistula (TEF)
- Incidence of EA/TEF: 1 in 2500-3000 live births
- Male preponderance: 1.26:1
- No evidence linking EA/TEF to maternal age
- Risk of a second child with EA/TEF: 0.5-2% (increases to 20% if more than one child is affected)
- Chromosomal anomalies in 6-10% of patients (e.g., trisomy 18 and 21)
Associated Anomalies
- EA can be divided into isolated EA and syndromic EA (roughly equal incidence)
- Most frequent associated malformations in syndromic EA:
- Vertebral anomalies (mainly thoracic region)
- VACTERL association (Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb abnormalities)
- CHARGE association (Coloboma, Heart defects, Atresia of the choanae, developmental Retardation, Genital hypoplasia, and Ear deformities)
Classification of EA/TEF
- Esophageal Atresia with Distal Fistula: 85%
- Dilated proximal esophagus descends to 3rd or 4th thoracic vertebrae
- Distal esophagus is slender and enters the trachea posteriorly
- Pure Esophageal Atresia without TEF: 7%
- Proximal and distal esophagus end blindly
- Proximal esophagus is dilated and ends at the level of the azygos vein
- H-Type Fistula without Esophageal Atresia: 4%
- Fistula starts from the membranous trachea and enters the esophagus
- Usually short, but diameter may vary
- Esophageal Atresia with Proximal Fistula: 2%
- Upper esophageal fistula is usually not found at the end of the pouch
- Fistula starts proximally on the trachea and ends distally in the dilated proximal esophagus
- Esophageal Atresia with Proximal and Distal Fistulas: incidence unknown
This quiz covers congenital abnormalities including Omphalocele, Gastroschisis, and Umbilical cord hernia, which are defects in the abdominal wall. Learn about the characteristics and differences between these conditions.
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