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Revision as of 11:48, 2 May 2016
Cleft Lip and Cleft Palate
This content will be covered in detail in the Face and Ear Development lecture/practical.
Atresia and Stenosis
The gastrointestinal tract can be considered as a simple tube or pipe, anything which blocks the tube (at different levels) can have different effects.
Gastrointestinal tract duplication sites based upon 78 clinical studies.
[1]
There are two types of abnormalities that impact upon the continuity of the gastrointestinal tract lumen.
Atresia - interuption of the lumen (esophageal atresia, duodenal atresia, extrahepatic biliary atresia, anorectal atresia)
Stenosis - narrowing of the lumen (duodenal stenosis, pyloric stenosis)
Duplication - incomplete recanalization resulting in parallel lumens, this is really a specialized form of stenosis.
Persistent Vitelline Duct
- Links: Meckel's Diverticulum | Meckel's Image 1 | Meckel's Image 2 | Meckel's Image 3
Abnormal Gut Rotation
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Presents clinically in symptomatic malrotation as:
Neonates - bilious vomiting and bloody stools.
Newborn - bilious vomiting and failure to thrive.
Infants - recurrent abdominal pain, intestinal obstruction, malabsorption/diarrhea, peritonitis/septic shock, solid food intolerance, common bile duct obstruction, abdominal distention, and failure to thrive.
Ladd's Bands - are a series of bands crossing the duodenum which can cause duodenal obstruction.
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- Links: Midgut Volvulus | Situs Inversus | Gastrointestinal Tract - Abnormalities
Organ Abnormalities
Extrahepatic Biliary Atresia, Accessory Pancreatic Tissue, Anular Pancreas, Accessory Spleen
Motility Disorders
Aganglionic colon (Hirschprung's disease) - abnormalities of neural crest migration.
- Links: Aganglionic colon | Enteric Nervous System | Neural Crest Development
Related Abnormalities
Omphalocele
Omphalocele ruptured during birth exposing liver and small intestine.
[2]
An abnormality appearing similar to gastroschisis, involves "covered by membranes" and a lack of normal return of the bowel to the abdominal cavity and has a different position relative to the umbilical cord. The origin differs, as this is a failure of midgut loops to return to the body cavity after initial herniation into the umbilical cord during week 6 - 10.
Abdominal Wall Defects
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Gastroschisis is a developmental abnormality occurs due to an abdominal wall defect, that allows the evisceration of the intestine.
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Clefting
Cleft lip and palate can affect postnatal nutrition, due to the inability of the infant to form a liquid seal on the breast during feeding.
Note - this topic will be covered in detail in the BGDB Practical - Face and Ear Development practical.
- Links: Palate Development | Cleft Palate Foundation - feeding your baby
Cleft Lip
An abnormality of face development leading to an opening in the upper lip. Due to failure during the embryonic period of maxillary process fusion with the frontonasal prominence. Clefting of the lip and or palate occurs with 300+ different abnormalities. Depending on many factors, this cleft may extend further into the oral cavity leading to a cleft palate. In most cases clefting of the lip and palate can be repaired by surgery.
Cleft Palate
An abnormality of face development leading to an opening in the palate, the roof of the oral cavity between the mouth and the nose. If it occurs alone, due to failure during the early fetal period of palatal shelves. Clefting of the lip and or palate occurs with 300+ different abnormalities. In most cases clefting of the lip and palate can be repaired by surgery.
Polyhydramnios
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Polyhydramnios (hydramnios, amniotic fluid disorder) refers to abnormally high amniotic fluid levels.
Fetal Causes
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Decreased Fluid Swallowing or Absorption
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Increased Fluid Production
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- Lung disorders
- Multiple pregnancy
- Hydrops fetalis
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Maternal Causes - Poorly controlled diabetes.
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Meconium Peritonitis
A condition caused by intra-uterine intestinal perforation leading to a sterile inflammatory reaction of the peritoneum.
Metabolic Disorders
- Phenylketonuria (PKU) - 1 in 10,000 live births (about 10 babies per year). PKU causes high blood levels of phenylalanine and severe intellectual disability. A diet low in phenylalanine, started in the first two to three weeks results in normal development.
- Galactosaemia - 1 in 40,000 births (about 1-3 cases per year), incidence rate is different for other groups. Babies cannot process galactose, a component of lactose, (enzyme galactose-1-phosphate uridyl transferase) metabolizes galactose in milk sugar. Life-threatening liver failure and infections can occur. A galactose-free diet instituted in the first week is life saving.
- Rarer metabolic disorders - Some fatty acid, organic acid and other amino acid defects can now be detected using Tandem Mass Spectrometry. These much rarer metabolic disorders affect about 15 – 18 babies per year. Early detection is important as diet and medications can treat most of these disorders. Without appropriate management they can cause severe disability or death.
- Links: Guthrie test | Neonatal Diagnosis | Normal Development - Milk | MedlinePlus - Galactosemia
Additional Information
Additional Information - Content shown under this heading is not part of the material covered in this class. It is provided for those students who would like to know about some concepts or current research in topics related to the current class page.
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Abnormalities and Development
- How these abnormalities may be generated in development.
- When they first occur.
- How can we detect these abnormalites.
- Do the abnormalites have a direct or indirect effect on the GIT.
- How serious to the embryo, fetus, newborn, child and adult are these conditions.
- What therapeutics are available for these conditions.
Ladd's band endoscopic view in adult.[4]
Australian GIT Abnormalities (2002-2003)
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Oesophageal atresia/stenosis - (2.0 per 10,000 births) ICD-10 Q39.0–Q39.3
- A congenital anomaly characterised by the absence of continuity or narrowing of the oesophagus, with or without tracheal fistula, including tracheoesophageal fistula with or without mention of atresia or stenosis of oesophagus.
- More males (58.6%) than females were affected with this anomaly.
- Women aged 40 years or older had the highest rate of affected pregnancies.
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Small intestinal atresia/stenosis - (2.4 per 10,000 births) ICD-10 Q41.0-Q41.2
- Complete or partial occlusion of the lumen of a segment of the small intestine. It can involve a single area or multiples areas of the duodenum, jejunum or ileum.
- Half of the babies (49.2%) with small intestinal atresia or stenosis were born pre-term.
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Anorectal atresia/stenosis - ( 3.1 per 10,000 births) ICD-10 Q42.0–Q42.3
- A congenital anomaly characterised by absence of continuity of the anorectal canal or of communication between rectum and anus, or narrowing of anal canal, with or without fistula to neighbouring organs. It excludes mild stenosis which does not need correction, and ectopic anus.
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Hirschsprung’s disease - (1.3 per 10,000 births) ICD-10 Q43.1
- A condition characterised by partial or complete bowel obstruction resulting from absence of peristalsis in a segment of bowel due to an aganglionic section of the bowel.
- More than two-thirds (66.7%) of the babies born with this anomaly were males.
- Women aged 40 years or older had the highest rate of affected pregnancies.
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Exomphalos - (Omphalocele) (2.1 per 10,000 births) ICD-10 Q79.2
- A congenital anomaly characterised by herniation of abdominal contents through the umbilical insertion and covered by a membrane which may or may not be intact. The anomaly excludes gastroschisis, hypoplasia of abdominal muscles and skin covered umbilical hernia.
- A significantly higher rate of births with exomphalos was seen in women who had multiple births.
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Gastroschisis - (2.6 per 10,000 births) ICD-10 Q79.3
- A congenital anomaly characterised by visceral herniation through a right side abdominal wall defect with an intact umbilical cord and not covered by a membrane. This anomaly excludes hypoplasia of abdominal muscles, skin covered umbilical hernia and exomphalos.
- Similar proportions of males and females with this anomaly.
- Half of the affected pregnant women delivered preterm.
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- Links: Gastrointestinal Tract - Abnormalities | ICD-10 GIT | Australian Statistics
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- Reference: Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.
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Australian Palate Abnormalities (2002-2003)
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Cleft lip with or without cleft palate (9.2 per 10,000 births) ICD-10 Q36.0, Q36.1, Q36.9, Q37.0–Q37.5, Q37.8, Q37.9
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A congenital anomaly characterised by a partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate. Excludes a midline cleft of the upper or lower lip and an oblique facial fissure (going towards the eye).
- 17% of the affected pregnancies were terminated in early pregnancy or resulted in fetal deaths. Most of the fetal deaths or terminations of pregnancy (95%) had multiple abnormalities.
- more commonly seen in males than in females.
- babies born before 25 weeks of gestation, 150 per 10,000 births had this anomaly. Most babies (80.0%) were born at term with a birthweight of 2,500 grams or more.
- Maternal age group was not associated with the anomaly.
- Rates significantly higher among Indigenous women than non Indigenous women.
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Cleft palate without cleft lip (8.1 per 10,000 births) ICD-10 Q35.0–Q35.9
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A congenital anomaly characterised by a closure defect of the hard and/or soft palate behind the foramen incisivum without a cleft lip. This anomaly includes sub-mucous cleft palate, but excludes cleft palate with a cleft lip, a functional short palate and high narrow palate.
- overall rate has increased to 9.1 when the rate was estimated using data from the four states that include TOP data. The reported number of fetal deaths or early terminations of pregnancy with this anomaly was small and these deaths or terminations could be due to other associated anomalies.
- proportion of females with this anomaly was higher (56.9%) than males.
- 52.7 per 10,000 babies born before 25 weeks of gestation.
- 83.0% were born at term and most of the babies (82.7%) had a birthweight of 2,500 grams or more.
- Women aged 40 years or older and women born in South Central America or the Caribbean region had the highest rates of affected births.
- Multiple births had a significantly higher rate of affected babies than singleton births.
- Rates did not differ significantly by Indigenous status or areas of residence.
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- Links: Palate Development | Head Development | Gastrointestinal Tract - Abnormalities | ICD-10 GIT | Australian Statistics
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- Reference: Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.
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ICD10 Other congenital malformations of the digestive system (Q38-Q45)
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XVII Congenital Malformations - Other congenital malformations of the digestive system (Q38-Q45)
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Q38 Other congenital malformations of tongue, mouth and pharynx
Excl.: macrostomia (Q18.4) microstomia (Q18.5)
- Q38.0 Congenital malformations of lips, not elsewhere classified Congenital: fistula of lip malformation of lip NOS Van der Woude's syndrome Excl.: cleft lip (Q36.-) cleft lip with cleft palate (Q37.-) macrocheilia (Q18.6) microcheilia (Q18.7)
- Q38.1 Ankyloglossia Tongue tie
- Q38.2 Macroglossia
- Q38.3 Other congenital malformations of tongue Aglossia Bifid tongue Congenital: adhesion fissure malformation NOS of tongue Hypoglossia Hypoplasia of tongue Microglossia
- Q38.4 Congenital malformations of salivary glands and ducts Absence Accessory Atresia (of) salivary gland or duct Congenital fistula of salivary gland
- Q38.5 Congenital malformations of palate, not elsewhere classified Absence of uvula Congenital malformation of palate NOS High arched palate Excl.: cleft palate (Q35.-) cleft palate with cleft lip (Q37.-)
- Q38.6 Other congenital malformations of mouth Congenital malformation of mouth NOS
- Q38.7 Pharyngeal pouch Diverticulum of pharynx Excl.: pharyngeal pouch syndrome (D82.1)
- Q38.8 Other congenital malformations of pharynx Congenital malformation of pharynx NOS
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Q39 Congenital malformations of oesophagus
- Q39.0 Atresia of oesophagus without fistula Atresia of oesophagus NOS
- Q39.1 Atresia of oesophagus with tracheo-oesophageal fistula Atresia of oesophagus with broncho-oesophageal fistula
- Q39.2 Congenital tracheo-oesophageal fistula without atresia Congenital tracheo-oesophageal fistula NOS
- Q39.3 Congenital stenosis and stricture of oesophagus
- Q39.4 Oesophageal web
- Q39.5 Congenital dilatation of oesophagus
- Q39.6 Diverticulum of oesophagus Oesophageal pouch
- Q39.8 Other congenital malformations of oesophagus Absent Congenital displacement Duplication (of) oesophagus
- Q39.9 Congenital malformation of oesophagus, unspecified
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Q40 Other congenital malformations of upper alimentary tract
- Q40.0 Congenital hypertrophic pyloric stenosis Congenital or infantile: constriction hypertrophy spasm stenosis stricture of pylorus
- Q40.1 Congenital hiatus hernia Displacement of cardia through oesophageal hiatus Excl.: congenital diaphragmatic hernia (Q79.0)
- Q40.2 Other specified congenital malformations of stomach Congenital: displacement of stomach diverticulum of stomach hourglass stomach Duplication of stomach Megalogastria Microgastria
- Q40.3 Congenital malformation of stomach, unspecified
- Q40.8 Other specified congenital malformations of upper alimentary tract
- Q40.9 Congenital malformation of upper alimentary tract, unspecified Congenital: anomaly deformity NOS of upper alimentary tract
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Q41 Congenital absence, atresia and stenosis of small intestine
Incl.: congenital obstruction, occlusion and stricture of small intestine or intestine NOS Excl.: meconium ileus (E84.1)
- Q41.0 Congenital absence, atresia and stenosis of duodenum
- Q41.1 Congenital absence, atresia and stenosis of jejunum Apple peel syndrome Imperforate jejunum
- Q41.2 Congenital absence, atresia and stenosis of ileum
- Q41.8 Congenital absence, atresia and stenosis of other specified parts of small intestine
- Q41.9 Congenital absence, atresia and stenosis of small intestine, part unspecified Congenital absence, atresia and stenosis of intestine NOS
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Q42 Congenital absence, atresia and stenosis of large intestine
Incl.: congenital obstruction, occlusion and stricture of large intestine
- Q42.0 Congenital absence, atresia and stenosis of rectum with fistula
- Q42.1 Congenital absence, atresia and stenosis of rectum without fistula Imperforate rectum
- Q42.2 Congenital absence, atresia and stenosis of anus with fistula
- Q42.3 Congenital absence, atresia and stenosis of anus without fistula Imperforate anus
- Q42.8 Congenital absence, atresia and stenosis of other parts of large intestine
- Q42.9 Congenital absence, atresia and stenosis of large intestine, part unspecified
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Q43 Other congenital malformations of intestine
- Q43.0 Meckel's diverticulum Persistent: omphalomesenteric duct vitelline duct
- Q43.1 Hirschsprung's disease Aganglionosis Congenital (aganglionic) megacolon
- Q43.2 Other congenital functional disorders of colon Congenital dilatation of colon
- Q43.3 Congenital malformations of intestinal fixation Congenital adhesions [bands]: omental, anomalous peritoneal Jackson's membrane Malrotation of colon Rotation: failure of incomplete insufficient of caecum and colon Universal mesentery
- Q43.4 Duplication of intestine
- Q43.5 Ectopic anus
- Q43.6 Congenital fistula of rectum and anus Excl.: congenital fistula: rectovaginal (Q52.2) urethrorectal (Q64.7) pilonidal fistula or sinus (L05.-) with absence, atresia and stenosis (Q42.0,Q42.2)
- Q43.7 Persistent cloaca Cloaca NOS
- Q43.8 Other specified congenital malformations of intestine Congenital: blind loop syndrome diverticulitis, colon diverticulum, intestine Dolichocolon Megaloappendix Megaloduodenum Microcolon Transposition of: appendix colon intestine
- Q43.9 Congenital malformation of intestine, unspecified
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Q44 Congenital malformations of gallbladder, bile ducts and liver
- Q44.0 Agenesis, aplasia and hypoplasia of gallbladder Congenital absence of gallbladder
- Q44.1 Other congenital malformations of gallbladder Congenital malformation of gallbladder NOS Intrahepatic gallbladder
- Q44.2 Atresia of bile ducts
- Q44.3 Congenital stenosis and stricture of bile ducts
- Q44.4 Choledochal cyst
- Q44.5 Other congenital malformations of bile ducts Accessory hepatic duct Congenital malformation of bile duct NOS Duplication: biliary duct cystic duct
- Q44.6 Cystic disease of liver Fibrocystic disease of liver
- Q44.7 Other congenital malformations of liver Accessory liver Alagille's syndrome Congenital: absence of liver hepatomegaly malformation of liver NOS
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Q45 Other congenital malformations of digestive system
Excl.: congenital: diaphragmatic hernia (Q79.0) hiatus hernia (Q40.1)
- Q45.0 Agenesis, aplasia and hypoplasia of pancreas Congenital absence of pancreas
- Q45.1 Annular pancreas
- Q45.2 Congenital pancreatic cyst
- Q45.3 Other congenital malformations of pancreas and pancreatic duct Accessory pancreas Congenital malformation of pancreas or pancreatic duct NOS Excl.: diabetes mellitus: congenital (E10.-) neonatal (P70.2) fibrocystic disease of pancreas (E84.-)
- Q45.8 Other specified congenital malformations of digestive system Absence (complete)(partial) of alimentary tract NOS Duplication Malposition, congenital of digestive organs NOS
- Q45.9 Congenital malformation of digestive system, unspecified Congenital: anomaly deformity NOS of digestive system
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World Health Organisation. International Statistical Classification of Diseases and Related Health Problems. (1992) 10th Revision (ICD-10). Geneva: WHO ICD-10 - 2016 Online (English)
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Links: Gastrointestinal Abnormalities
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ICD10 - Gastrointestinal | Genital | Renal | Integumentary
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Australian Statistics - GIT (1981 - 1992).
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The pie diagram shows the relative contribution of major gastrointestinal tract abnormalities as a percentage of the total number of congenital abnormalities in Australia beween 1981 - 92.
Note that the digestive system represents approximately 6% of all major congenital abnormalities.
One of the most common abnormalities occurring in (2% - 3% population) is Meckel's Diverticulum.
The mouth (cleft lip, cleft palate) is part of the digestive tract, but more accurately reflects an abnormality of face formation.
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Data shown as a percentage of all major abnormalities based upon published statistics using the same groupings as Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352.
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USA Statistics - CDC National estimates for selected GIT related major birth defects (2004–2006).
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Birth Defects
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Cases per Births (1 in ...)
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Estimated Annual Number of Cases
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Cleft palate without cleft lip
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1,574
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2,651
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Cleft lip with and without cleft palate
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940
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4,437
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Esophageal atresia/tracheoesophageal fistula
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4,608
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905
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Rectal and large intestinal atresia/stenosis
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2,138
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1,952
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Gastroschisis
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2,229
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1,871
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Omphalocele
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5,386
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775
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Diaphragmatic hernia
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3,836
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1,088
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Trisomy 21 (Down syndrome)
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691
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6,037
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References
BGDB: Lecture - Gastrointestinal System | Practical - Gastrointestinal System | Lecture - Face and Ear | Practical - Face and Ear | Lecture - Endocrine | Lecture - Sexual Differentiation | Practical - Sexual Differentiation | Tutorial
Glossary Links
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Cite this page: Hill, M.A. (2024, April 26) Embryology BGDB Gastrointestinal - Abnormalities. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/BGDB_Gastrointestinal_-_Abnormalities
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- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G