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CONGENITAL ANOMALIES OF GUT(I) Learning objectives At the end of the lecture, students should be able to, • Know the congenital anomalies of gut • Enlist the special features associated with common anomalies related to gut including : 1. Cleft Lip or Cleft Palate 2. Hernias 3. Esophageal Atresia 4.Malrotation of gut 5. Anorectal malformations Congenital Malformations • Causes – Genetic/chromosomal – Enviornmental • Incidence – 2-3% of newborn (4-6% by age 5) – In 40-60% of all birth defects cause is unknown • Genetic/chromosomal – 10%-15% • Environmental – 10% • Multifactorial (genetic & environmental) – 20%-25% The most common anomalies are: 1. Cleft Lip or Cleft Palate 2. Hernias 3. Esophageal Atresia 4. Malrotation of gut 5.Anorectal malformations Cleft Lip : • is a congenital fissure in the upper lip. Cleft Palate: • is a midline fissure of the palate that results from failure of the two sides to fuse. Cleft lip and palate • About 30% of such cases are part of syndromes with other abnormalities. • It is one of the most common congenital abnormalities with a worldwide incidence as high as 1 in 700. The incidence of cleft palate alone is about 1 in 2,000. • The appearance may inhibit maternal bonding. There may be difficulties in feeding and with speech. • Generally, the results of surgical treatment are extremely good. Esophageal Atresia • The esophagus instead of being an open tube from the throat to the stomach is closed at some point. • A fistula is common between the trachea and esophagus. • Oesophageal atresia occurs between 1 in 3,500 and 1 in 5,000 births. • 6 times as common in twins as in singletons. • More common in the trisomy disorders of Down's syndrome, Patau's syndrome and Edwards' syndrome. Clinical manifestation • Excessive salivation. • Coughing, choking, cyanosis, • Apnea • Abdominal distention. Diagnosis; The first sign of esophageal atresia may be polyhydramnios If atresia is present, an inserted nasogastric tube will typically stop at 10 to 12 cm. Tracheao Esophageal Fistula TEF • Tracheoesophageal fistula and esophageal atresia result from failure of the embryonic esophagus and trachea to develop and separate correctly. • Respiratory system development begins at about day 26 of gestation. • Abnormal development of the septum during this time can lead to tracheoesophageal fistula. Atresia with Tracheo-esophageal fistula • The commonest congenital anomaly of the Esophagus • The upper segment ends as a blind pouch • The lower segment is connected to the trachea Atresia with Tracheo-esophageal fistula Clinical Picture Immediately after birth: Marked regurgitation and Drolling Oral Catheter fails to enter the stomach Investigations; Lipidol swallow Treatment: Immediate surgical repair Pyloric stenosis • In pyloric stenosis, the muscle in the pylorus thickens and enlargens to the point of narrowing and possibly closing off the opening altogether. • This is a fairly common birth defect but one that needs to be treated immediately with surgery to allow the baby to feed and digest its food. Is a protrusion of a portion of an organ or organs through an abnormal opening through • The diaphragm, • The abdominal wall, or • The inguinal canal. Diaphragmatic Hernias Protrusion of abdominal organs through opening in diaphragm. Symptoms • Mild to severe respiratory distress • Tachypnea , cyanosis,dyspnea • Absent breath sound. • Shock Protrusion of stomach through esophageal hiatus. Symptoms • Dysphagia, vomiting, • Bleeding (hematemesis) Umbilical Hernia Weakness in abdominal wall around umbilicus, incomplete closure of abdominal wall allowing intestinal contents to protrude through opening. Symptoms • Noted by inspection and palpation of the abdomen. • High incidence in premature. Abdominal Wall Defects Omphalocele • Occurs in 1 in 6,000 births • Gastrointestinal structures protrude through an unclosed umbilical ring, covered in membranes – Herniated organs may not have fully retracted in the 10th wk (likely if amnion covered only) – Or, if there is peritoneum in the sac, the organs retracted but herniated again secondarily when the ventral abdominal wall failed to close Abdominal Wall Defects Omphalocele • One half to one third have other anomalies or chromosomal defects – Pentology of Cantrell (failure of migration and fusion of the lateral and cephalic folds): omphalocele, diaphragmatic hernia, sternal cleft, ectopia cordis (evagination of the heart), & intracardiac anomaly – Beckwith-Wiedeman Syndrome: omphalocele, macroglossia, macrosomia, hemihypertrophy, hypoglycemia related to pancreatic hyperplasia – Associated with Trisomy 13, 18, &21 Abdominal Wall Defects Gastroschisis Incidence 2-4.9 per 10,000 live births Male preponderance Most common abdominal wall defect Etiology – Cause is unknown, but may be related to fetal distress – Infants are more likely to be premature – Term babies are more likely to be SGA Duodenal atresia • Duodenal atresia occurs in 1 out of every 2,500 live births. • Half of the infants with this condition are born prematurely and approximately two-thirds have associated abnormalities of the heart, genitourinary, or intestinal tract. • Nearly 40% have Down syndrome. • Infants with duodenal atresia usually vomit within hours after birth, and may develop a distended abdomen. • Abdominal X-rays show a large dilated stomach and duodenum without gas in the remaining intestinal tract.
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