Midgut (intestine) is initially continuous with the yolk sac (externally) The connection narrows becoming a "yolk stalk" (and finally lost altogether). Initial growth of the midgut forms a loop extending outside the ventral body wall. Continued growth occurs outside the body wall (herniated)

Growth leads to a series of rotates (establishing the adult anatomy

The most common anomalies are:1. Cleft Lip or Cleft Palate2. Hernias3. Esophageal Atresia4. Malrotation of gut5.Anorectal malformations

INTESTINAL MALROTATION AND VOLVULUSINTRODUCTION:

Malrotation is a condition in which the intestines do not develop normally during pregnancy. By the 4 week of pregnancy the baby’s intestines are a small straight tube that goes from the stomach to the rectum. As the fetus grows, this tube begins to separate into other organs. The intestines move into the base of the umbilical cord. Around the 7 to 10 week of pregnancy, the intestines begin to move back into the abdominal space. Here they make a two-part turn before taking their normal position. When this two-part turn does not happen, malrotation of the intestines is present at birth.

Malrotation occurs equally in males and females. The cause is unknown. It may occur alone or along with other birth defects. About 70% of children with malrotation may have other birth defects which may involve the heart, liver or spleen.

A volvulus is a condition in which the intestines twist. This cuts off the blood supply to the intestines. This results in bowel death and is a medical emergency.

Incidence Occurs in 1/500 live births Male to female ration is 2:1 in neonatal presentation No sexual predilection in patients over 1 year As many as 40% present within the first week 50% present by 1 month 75% present by 1 year

Etiology Rotation and fixation of the intestine takes place during the first 3 months of

gestation As rotation begins, the intestine moves outside the abdomen At 10 weeks of gestastional age the intestine returns to the abdomen Normal mesenteric attachment extends from the ligament of Treitz to the cecum Ascending and descending colon are fixed retroperitoneally Malrotation is when the normal process of rotation is arrested or deviated at various

stages Anomalous fixation may also occur

Dense fibrous bands extending from the cecum and right colon across the duodenum to the retroperitoneum may form – Ladd’s Bands

Intestinal Malrotation• With intestinal malrotation, the large intestine is located to the right of the abdomen, while

the small intestine is on the left of the abdomen. • The cecum (beginning of large intestine) and the appendix, which are normally attached to

the right lower abdominal wall, are unattached and located in the upper abdomen.• In many cases, abnormal tissue referred to as Ladd's bands attaches the cecum to the

duodenum (beginning of small intestine) and may create a blockage in the duodenum.

Volvulus• Abnormal rotation or fixation can lead to this life threatening condition• Midgut lies free with only duodenum and proximal colon attached to the posterior

abdominal wall• Volvulus can occur as suspended regions of the gut twist around themselves constricting

the intestine and compromising the blood supply

– Surgical emergency

• 80% present in the first month• Symptoms include bilious vomiting (95%), abdominal pain (varies), bloody stools (28%)

SIGNS AND SYMPTOMS:The most common sign of malrotation is vomiting that cannot be stopped.

The vomit may be yellow or green in color. Other symptoms may include:

Pain in the abdomen Tiredness Drawing up the legs toward the chest because of belly cramps Dehydration (getting “dried out”) Child cannot pass gas or stool Fast heart rate and breathing rate

Signs and Symtpoms of Intestinal Malrotation and Volvulus

• In some people with malrotation, symptoms never occur and a diagnosis is never made. In others, symptoms may develop at any age.

• When the intestine is obstructed by Ladd's bands or when the blood supply is twisted, symptoms may include:

• Vomiting bile (greenish-yellow digestive fluid) • Abdominal pain (in infants, this may result in drawing up the legs) • Abdominal swelling • Rapid heart rate • Shock • Rapid breathing • Bloody bowel movements

DIAGNOSIS:

Malrotation is usually diagnosed by a series of x-rays called an Upper GI Series or UGI. X-rays are taken of the esophagus, stomach and intestines while the patient drinks a liquid called contrast medium. The contrast medium makes the organs show up on the x-rays. Other tests such as barium enema (BE), ultrasound and CT scan may also be done..

CLEFT LIP AND CLEFT PALATE

Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip and palate, are variations of a type of clefting congenital deformity caused by abnormal facial development during gestation. A cleft is a fissure or opening or a gap. It is the non-fusion of the body's natural structures that form before birth. Approximately 1 in 700 children born have a cleft lip and/or a cleft palate. It has sometimes colloquially been equated with the phrase harelip, but this is used incorrectly, as that term refers to the pulling of the lip towards the nose. A cleft lip or palate can be successfully treated with surgery, especially so if conducted soon after birth or in early childhood.

Clefts can also affect other parts of the face, such as the eyes, ears, nose, cheeks, and forehead. In 1976, Paul Tessier described fifteen lines of cleft. Most of these craniofacial clefts are even rarer and are frequently described as Tessier clefts using the numerical locator devised by Tessier.

With the increasing popularity of various reconstructive surgery procedures, including management of cleft lip and palate, it is imperative that the prospective patient’s relatives research and understand different issues like what the procedure can and cannot treat, inherent risks, costs, and so on. Keep in mind, reconstructive surgery is just that – a surgical procedure whose results cannot simply be erased. When considering any form of cosmetic surgery, it is important to have a good understanding of the procedure before making a decision. Take some time to view the introductory information we have provided on management of clefting. While the information contained in this website will provide you with a basic understanding of the procedure, it may not answer all of your questions. To get complete answers to the questions you are seeking, we recommend that you contact us.

Embryology and causes of cleft !

The development of the face is coordinated by complex morphogenetic events and rapid proliferative expansion, and is thus highly susceptible to environmental and genetic factors, rationalising the high incidence of facial malformations. During the first six to eight weeks of pregnancy, the shape of the embryo's head is formed. Five primitive tissue lobes grow:

              

(Orange) one from the top of the head down towards the future upper lip; (Frontonasal Prominence)(Bluish) two from the cheeks, which meet the first lobe to form the upper lip; (Maxillar Prominence)(Greenish) and just below, two additional lobes grow from each side, which form the chin and lower lip; (Mandibular Prominence)If these tissues fail to meet, a gap appears where the tissues should have joined (fused). This may happen in any single joining site, or simultaneously in several or all of them. The resulting birth defect reflects the locations and severity of individual fusion failures (e.g., from a small lip or palate fissure up to a completely malformed face).

The upper lip is formed earlier than the palate, from the first three lobes (Frontonasal and

Maxillar Prominences). Formation of the palate is the last step in joining the five embryonic facial lobes, and involves the back portions of the lobes (Maxillar Prominences). These back portions are called palatal shelves, which grow towards each other until they fuse in the middle. This process is very vulnerable to multiple toxic substances, environmental pollutants, and nutritional imbalance.

Genetic factors contributing to cleft lip and cleft palate formation have been identified for some syndromic cases, but knowledge about genetic factors that contribute to the more common isolated cases of cleft lip/palate is still patchy.Many clefts run in families, even though in some cases there does not seem to be an identifiable syndrome present, possibly because of the current incomplete genetic understanding of midfacial development. (e.g. if a person is born with a cleft, the chances of that person having a child with a cleft, given no other obvious factor, rises to 1 in 14).

Syndromic cases: The Van der Woude Syndrome: is caused by a specific variation in the gene IRF6 that increases the occurrence of these deformities three folds. Siderius X-linked mental retardation syndrome: is caused by mutations in the PHF8 gene.Stickler's Syndrome: cleft lip and palate, joint pain, and myopia. Loeys-Dietz syndrome: cleft palate or bifid uvula, hypertelorism, and aortic aneurysm.Hardikar syndrome: cleft lip and palate, Hydronephrosis, Intestinal obstruction and other symptoms. Patau Syndrome (trisomy 13): Cleft lip/palate and other symptoms and disorders.

Non-syndromic cases:This includes in particular sequence variants in the genes IRF6, PVRL1 and MSX1. Environmental influences may also cause orofacial clefting. In humans, fetal cleft lip had been linked to maternal hypoxia, as caused by e.g. maternal smoking, alcohol abuse or some forms of maternal hypertension treatment. Other environmental factors that have been studied include: seasonal causes (such as pesticide exposure); maternal diet and vitamin intake; retinoids - which are members of the vitamin A family; anticonvulsant drugs; alcohol; cigarette use; nitrate compounds; organic solvents; parental exposure to lead; and illegal drugs (cocaine, crack cocaine, heroin, etc).Current research continues to investigate the extent to which Folic acid can reduce the incidence of clefting.

Types of Cleft lip and palate:

Lip cleft can occur as a one sided (unilateral) or two sided (bilateral). It is due to the failure of fusion of the maxillary and medial nasal processes (formation of the primary palate). Palate cleft occurs due to the failure of fusion of the lateral palatine processes, the nasal septum, and/or the median palatine processes (formation of the secondary palate).

If the cleft does not affect the palate structure of the mouth it is referred to as cleft lip. Cleft lip is formed in the top of the lip as either a small gap or an indentation in the lip (partial or incomplete cleft) or it continues into the nose (complete cleft). A mild form of a cleft lip is a microform cleft. A microform cleft can appear as small as a little dent in the red part of the lip or look like a scar from the lip up to the nostril. In some cases muscle tissue in the lip underneath the scar is affected and might require reconstructive surgery. It is advised to have newborn infants with a microform cleft checked with a craniofacial team as soon as possible to determine the severity of the cleft.

                

Cleft palate is a condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not completely joined. The hole in the roof of the mouth caused by a cleft connects the mouth directly to the nasal cavity. The soft palate is in these cases cleft as well. In most cases, cleft lip is also present. Palate cleft can occur as complete (soft and hard palate, possibly including a gap in the jaw) or incomplete (a 'hole' in the roof of the mouth, usually as a cleft soft palate). When cleft palate occurs, the uvula is usually split. Submucous cleft palate (SMCP) can also occur, which is an occult cleft of the soft palate with a classic clinical triad of bifid uvula, a furrow along the midline of the soft palate, and a notch in the posterior margin of the hard palate.

         

A direct result of an open connection between the oral cavity and nasal cavity is velopharyngeal inadequacy (VPI). Because of the gap, air leaks into the nasal cavity resulting in a hypernasal voice resonance and nasal emissions.

Secondary effects of VPI include speech articulation errors (e.g., distortions, substitutions, and omissions) and compensatory misarticulations (e.g., glottal stops and posterior nasal fricatives). Possible treatment options include speech therapy, prosthetics, augmentation of the posterior pharyngeal wall, lengthening of the palate, and surgical procedures.

Complaints manifestations and Diagnosis!

The spectrum of severity in visible cleft lip and palate is broad, ranging from notches of the vermilion and/or grooves in the philtrum to complete unilateral and bilateral clefts of the lip and palate.

Traditionally, the diagnosis is made at the time of birth by physical examination. Recent advances in prenatal diagnosis have allowed obstetricians to diagnose facial clefts in utero.

Plain of Management:

Cleft lip and palate is very treatable; however, the kind of treatment depends on the type and severity of the cleft. Cleft may cause problems with feeding, ear disease, speech and socialization.The members of the Cleft Management Team at a minimum include: a plastic or facial plastic surgeon, or an Oral and maxillofacial surgeon trained in craniofacial surgery, otolaryngologist, geneticist, orthodontist, speech therapist and social worker.

A- Since birth till 2 months:- Care of breast feeding: a baby being fed using a customized bottle, the Haberman Feeder or a spoon. The upright sitting position allows gravity to help the baby swallow the milk more easily. A large hole, crosscut, or slit in the nipple, a protruding nipple and rhythmically squeezing the bottle insert can result in controllable flow to the infant without the stigma caused by specialized equipment.

                                  

- Care of chest infection: guard against regurgitation. - Care of middle ear infection (otitis media): Recurrent middle ear infections - which can eventually lead to total hearing loss - is caused by the abnormal Eustachian tubes where food or secretions is stagnated.To avoid these problems feeding and sleeping should be with elevated head. A tympanostomy tube is often inserted into the eardrum to aerate the middle ear. This is often beneficial for the

hearing ability of the child.- Pre-surgical devices for cleft lip treatment: In some cases of a severe bilateral complete cleft, the premaxillary segment will be protruded far outside the mouth. Nasoalveolar molding followed by surgery can improve long-term nasal symmetry among patients with complete unilateral cleft lip-cleft palate patients compared to surgery alone.

B- At 2 to 3 months (Lip repair +/- alveolus repair):Within the first 2–3 months after birth, surgery is performed to close the cleft lip. While surgery to repair a cleft lip can be performed soon after birth, the often preferred age is at approximately 10 weeks of age, following the "rule of 10s" (the child is at least 10 weeks of age; weighs at least 10 pounds, and has at least 10g hemoglobin). The most common procedure to repair a cleft lip is the Millard procedure.

              

If the cleft is bilateral and extensive, two surgeries may be required to close the cleft, one side first, and the second side a few weeks later. Incomplete cleft gives the surgeon more tissue to work with, creating a more supple and natural-looking upper lip. Often an incomplete cleft lip requires the same surgery as complete cleft. This is done for two reasons: - Firstly the group of muscles required to purse the lips run through the upper lip. In order to restore the complete group a full incision must be made. - Secondly, to create a less obvious scar the surgeon tries to line up the scar with the natural lines in the upper lip (such as the edges of the philtrum) and tuck away stitches as far up the nose as possible.

C- At 9 up to 18 months: (Palate repair +/- Orthodontics):- Pre-surgical palatal obturator (a prosthetic device made to fit the roof of the mouth covering the gap).- Approximately 20-25% only require one palatal surgery to achieve a competent velopharyngeal valve capable of producing normal, non-hypernasal speech. However, combinations of surgical methods and repeated surgeries are often necessary as the child grows. - One of the new

innovations of cleft lip and cleft palate repair is the Latham appliance. The Latham is surgically inserted by use of pins during the child's 4th or 5th month. After it is in place, the doctor or parents, turn a screw daily to bring the cleft together to assist with future lip and/or palate repair.

D- At 3 years: (Speech and Hearing Problems):- Soft palate repair: Speech problems are usually treated by a speech-language pathologist. In some cases pharyngeal flap surgery or augmentation pharyngoplasty is performed to reduce the escape of nasal airflow in speech sounds requiring oral air pressure, to improve the pronunciation of those sounds, and reduce nasality in those parts of speech that are not normally nasalized. - The speech-language pathologist may also be called on to correct incorrect speaking habits that the child developed before the cleft was corrected surgically. Speech is both receptive and expressive: i. We hear and understand spoken language (receptive). ii. We learn to manipulate our mouth, tongue, oral cavity, to express ourselves (expressive).Babies with palatal clefts may have compromised hearing and therefore, if the baby cannot hear, it cannot try to mimic the sounds of speech. Thus, even before expressive language acquisition, the baby with the cleft palate is at risk for receptive language acquisition. Because the lips and palate are both used in pronunciation, individuals with cleft usually need the aid of a speech therapist.

E- At 7 years (Orthodontics):- Alveolus repair by bone grafting: If the cleft extends into the maxillary alveolar ridge, the gap is usually corrected by filling the gap with bone tissue. The bone tissue can be acquired from the patients own chin, rib or hip.

F- At 18 years:- Rhinoplasty- jawbone surgery

MECONIUM ILEUS

Meconium ileus is obstruction of the terminal ileum by abnormally tenacious meconium;

it almost universally occurs in neonates with cystic fibrosis. Meconium ileus accounts for up to

33% of neonatal small-bowel obstructions. Symptoms include emesis that may be bilious,

abdominal distention, and failure to pass meconium. Diagnosis is based on clinical presentation

and x-rays. Treatment is enemas with dilute contrast under fluoroscopy and surgery if enemas

fail.

Meconium ileus is almost always an early manifestation of cystic fibrosis, which causes GI

secretions to be extremely viscid and adherent to the intestinal mucosa. These secretions are the

presenting manifestation of cystic fibrosis in 10 to 25% of cases. Obstruction occurs at the level

of the terminal ileum (unlike the colonic obstruction caused by meconium plug syndrome) and

may be diagnosed by prenatal ultrasonographt. Distal to the obstruction, the colon is narrow and

empty or contains small amounts of desiccated meconium pellets. The relatively empty, small-

caliber colon is called a microcolon.

About 50% of cases are complicated by malrotation, intestinal atresia, or perforation. The

distended loops of small bowel may twist to form a volvulus in utero. If the intestine loses its

vascular supply and infarcts, sterile meconium peritonitis can result. The infarcted intestinal loop

may be resorbed, leaving an area or areas of intestinal atresia.

Symptoms and Signs

After birth, infants fail to pass meconium in the first 12 to 24 h, which is typical for normal

neonates. They have signs of intestinal obstruction, including bilious emesis and abdominal

distention. Loops of distended small bowel sometimes can be palpated through the abdominal

wall and may feel characteristically doughy. Meconium peritonitis with respiratory distress and

ascites can occur secondary to perforation.

Diagnosis

Plain x-rays

If positive, tests for cystic fibrosis

Prenatal ultrasonography can detect changes in utero suggestive of cystic fibrosis and meconium

ileus, but these changes are not specific. Diagnosis is suspected in a neonate with signs of

intestinal obstruction, particularly if a family history of cystic fibrosis exists. Patients should

undergo abdominal x-rays, which show dilated intestinal loops; however, fluid levels are often

absent. A “soap bubble” or “ground glass” appearance due to small air bubbles mixed with the

meconium is diagnostic of meconium ileus. If meconium peritonitis is present, calcified

meconium flecks may line the peritoneal surfaces and even the scrotum. A barium enema reveals

a microcolon with an obstruction in the terminal ileum.

Patients diagnosed with meconium ileus should be tested for cystic fibrosis

Treatment

Radiographic contrast enema

Sometimes surgery

MECKEL’S DIVERTICULUM

IMPERFORATE ANUS

Is the most common congenital anomaly of GIT in newborn.

Diagnosis

• There is no anal opening.

• The nurse is unable to insert the thermometer.

• No passage of meconium.

• Later on abdominal distention and pain occur.