Clefts of the lip or palate occur in approximately one of every 600 to 700 Caucasian newborns. The frequency is doubled in Asians and halved in African Americans. Cleft lip occurs somewhat more often in male patients and on the left side. The defect probably results from lack of the mesodermal reinforcement of the junction of the nasome dial and lateral facial processes that normally takes place in the sixth to seventh week of gestation. Multiple genetic influences seem to be more important than environmental factors. The cleft deformity ranges from minor notching to complete separation of the entire lip and nasal floor (Fig. 44-1). The defect may involve the lip, the lip and palate, or only the palate, and it may be unilateral or bilateral. Median cleft lip is rare and is usually associated with hypotelorism, microcephaly, and early death.

Airway obstruction is not typically a consequence of isolated cleft lip or palate. Initial care focuses on feeding the infant and counseling the parents. Swallowing and airway protection should be normal, but the negative pressure of the normal suck is vented through the cleft, resulting in inadequate inflow. Fatigue during feeding is common and may mimic satiation. Although suckling is not altogether discouraged, a baby with a complete cleft lip or any degree of cleft palate should be expected to suffer mechanical feeding difficulty. The solution may be to rely on an enlarged nipple aperture, a compressible bottle, or a syringe feeder. With the use of a positive-pressure delivery system, the feeding schedule should be normal.

Lip closure is usually carried out at around 3 months of age. The major goals are muscle continuity, balanced lip height, the normal Cupid’s-bow lip shape, a smooth and pout-free lip margin, a good nasal sill, adequate sulcus lining, and a minimal, well-placed scar. The wide, complete unilateral and the complete bilateral clefts present greater challenges. Preliminary lip adhesion for the unilateral case or presurgical orthodontics can improve anatomic associations and facilitate the definitive surgery. Residual nasal deformity is often a stubborn problem and may require secondary surgery.

The embryologic palatal shelves initially hang vertically and then rise to meet and fuse from front to back between weeks 7 and 12 of gestation. Interference with this process may result in complete, incomplete, or submucous cleft of the palate. Initial care is discussed in the section on cleft lip.

The major significance of this defect is the effect on speech. Normal modulation of speech requires reliable, dynamic palatal separation of the mouth from the nose. This requires a palate of adequate length, suppleness, and muscle power. Velopharyngeal incompetence or incomplete nasal closure results in hypernasal speech and significant communication disability.

Chronic or recurrent effusion and infection in an otherwise normal ear is common in the child with a cleft palate because eustachian tube function is compromised. This child usually needs myringotomies and ventilation tubes.

Early surgery seems to have a negative effect on facial growth, but the trend is toward closure during infancy because of the improved speech results. Most American surgeons choose 9 to 12 months of age as optimal timing for a single-stage closure.

Palatal closure is accomplished with local soft tissue. Mucoperiosteal flaps are mobilized and closed in the midline, with oral and nasal lining, effecting muscle apposition and retroposition. No bone reconstruction is involved. The goal is normal speech, and this is achieved in approximately 85% of patients. A second operation produces good results for almost all the remaining infants.

An essential concept in the treatment of these children is a multidisciplinary approach. The patient should be followed through adolescence by a team consisting of a plastic surgeon, otolaryngologist, audiologist, pedodontist, orthodontist, speech pathologist, geneticist, pediatrician, and social worker.

The Pierre-Robin sequence is characterized by retrognathia or microgenia (i.e., small or recessed jaw or chin), glossoptosis, airway obstruction, and cleft palate. The lack of forward support of the tongue allows it to fall back and
compromise the airway. The basic defect may result from intrauterine restriction of mandibular growth.

Intensive monitoring, including a home apnea monitor, is necessary for many patients. The airway can usually be maintained by conservative measures. Prone positioning allows the tongue to fall forward. An appropriately apertured board may facilitate this positioning, and a nasal airway may be useful. Early gavage feedings may obviate hazardous oral feedings. A lip-tongue adhesion may be performed in more difficult cases, but its effectiveness varies. Tracheostomy should be avoided, if possible, but it is sometimes the only safe choice. Management should be as conservative as the clinical situation permits. The airway problem is typically self-limited, resolving as the child grows.

Thyroid tissue left behind in an abnormal location during normal developmental descent can result in a thyroglossal duct cyst, which presents in the midline of the neck. Infection may lead to a cutaneous salivary fistula. After appropriate therapy for infection, treatment consists of resection of the cyst, the central portion of the hyoid bone, and dissection of the tract up to its origin at the foramen cecum (Sistrunk operation) (7,8 and 9).

Branchial clefts with their corresponding arches and pouches are embryologic structures that give rise to many of the components of the lower face and neck. Abnormal persistence of any portion of the branchial apparatus leads to specific anomalies about the face and neck (10,11).

These lesions are not true branchial cleft remnants because they originate from an abnormal formation of the ear rather than a branchial cleft component. The preauricular sinus almost always ends blindly, and excision is indicated to prevent recurrent infection in later years.

Fistulas that originate from the first branchial arch present in the neck just below the ear and communicate with the external auditory canal. A fistula originating from the second branchial arch is the most common branchial cleft remnant. The fistula usually extends from the skin of the lower neck upward along the sternocleidomastoid muscle and then passes inward between the internal and external carotid arteries to attach to the posterolateral pharynx just below the tonsillar fossa (Fig. 44-2). The presenting complaint is usually related to persistent or intermittent drainage onto the neck. Complete surgical extirpation is necessary for cure. A large incision in the neck can be avoided by the use of two or three small, neat, transverse stair-step incisions.

Approximately 10% of persistent branchial deformities are cystic. These invariably arise low in the anterior triangle of the neck and present as smooth cysts anterior to the sternocleidomastoid muscle. Dissection with excision is curative.

Occasionally, a baby presents with a cutaneous tab in the skin of the anterior aspect of the neck. A small, irregular mass of cartilage may be contained in the skin tab. The cartilage is never associated with a fistula, and removal of this small appendage is not urgent.

Cystic hygroma (i.e., lymphangioma) is a congenital deformity arising from abnormal development of lymphatic channels (Fig. 44-3) (12). About 80% of these watery cysts occur in the neck, and most are located posterior to the sternocleidomastoid muscle. Other sites of occurrence are the groin, the axilla, and the mediastinum. The term “hygroma” suggests the watery fluid contained in the
endothelium-lined spaces. The cyst may be unilocular, but more often there are numerous cysts of various sizes that permeate the surrounding structures and distort the local anatomy. Supporting connective tissue often shows extensive lymphocytic infiltration. Except in the case of a single large cyst, no definite cleavage plane is found between hygroma and normal tissue.

The lesion is usually evident at birth. Occasionally, the mass occupies the entire submandibular region, distorting the subglottic area and compromising the airway. A supraclavicular mass may become prominent with the Valsalva maneuver. This form of cystic hygroma is usually associated with a mediastinal component. Some cystic hygromas contain nests of poorly supported vascular channels that are prone to bleeding and may produce sudden enlargement and discoloration of the lesion.

Symptoms are related entirely to the location and size of the mass. Disfigurement is often severe. Infection in the mass may lead to dangerous regional cellulitis, but after the infection subsides, the resultant intracystic fibrosis and scar may significantly reduce the size of the tumor mass. Prenatal ultrasonography has been used to diagnose cystic hygroma (13). This modality has demonstrated a hidden mortality with a high incidence of associated anomalies, including abnormal karyotypes and hydrops fetalis, when lymphangiomas are detected before 30 weeks of gestation.

Repeated aspiration of the cyst with injection of sclerosing agents is not recommended because any surgical excision that is subsequently required is rendered significantly more difficult by the sclerosing procedure. Elective surgical excision between 4 and 12 months of age is indicated for asymptomatic patients. Airway compression or recurrent infections may necessitate removal at an earlier age (14). Total excision is often impractical because of the extent of the hygroma and its proximity to vital structures. Important nerves and vascular structures must not be sacrificed in an attempt to achieve total excision of this benign lesion; multiple excisions of the residual hygroma are preferable. Postoperative wound drainage using closed-suction drains may reduce recurrence.

Congenital lobar emphysema can be severe or life-threatening as a result of hyperexpansion of a single lobe of the lung. Air is permitted into the involved lobe but denied egress. The lobe becomes emphysematous, resulting in compression of adjacent pulmonary parenchyma and mediastinal displacement. Symptoms may appear shortly after birth and invariably develop before 4 months of age (49). The cause is unknown. An inherent, cartilaginous defect in the bronchus has been postulated, but the bronchial abnormality is not always recognizable in the resected specimen.

A chest radiograph is characteristic, showing hyperaeration of the involved lobe with mediastinal shift away from the affected side. The lobar distribution of the hyperaeration can be appreciated, and adjacent pulmonary parenchyma is compressed. The upper lobes are most frequently involved, but the condition may be seen in the middle lobe. Rarely, the lesion is bilateral (50).

Treatment is surgical, and prompt thoracotomy and lobectomy are undertaken after the diagnosis is made. An infant may remain compensated for some weeks and then deteriorate rapidly from acute hyperinflation of the in-volved lobe. There is no place for expectant management of congenital lobar emphysema.

An identical clinical picture may be seen in the neonate who has been ventilated for a prolonged time and develops a large pneumatocele as a result of respiratory tract barotrauma. It is often difficult for the physician to determine whether respiratory distress is caused by the pneumatocele or by generalized pulmonary parenchymal disease. Surgical excision of the pneumatocele is indicated if the lesion is enlarging and the respiratory status is worsening without another apparent cause.

Cystic adenomatoid malformation (CAM) is a pulmonary maldevelopment that presents with cystic replacement of pulmonary parenchyma. If the cysts are small (i.e., microcystic CAM) and constitute a small portion of one lung, the child may be asymptomatic. If the lesion is microcystic and replaces a large portion of the lung, the fetus may develop hydrops, and the prognosis is poor (51). If the cysts are macroscopic and the child is in respiratory distress at birth, the problem may be misdiagnosed as congenital diaphragmatic hernia. Appropriate therapy for the symptomatic neonate with CAM is thoracotomy and resection of the involved lung. Postoperative support with extracorporeal membrane oxygenation (ECMO) has been necessary for
infants developing severe persistent pulmonary hypertension after CAM excision (52).

Bronchogenic cyst is another lung bud anomaly in which the normal bronchiole-to-bronchiole communication is absent or atretic, resulting in a mucus-producing cyst that may obstruct the trachea, bronchus, or esophagus. This seldom causes severe problems in the neonate, but it must be considered if a space-occupying lesion is detected on a chest x-ray film obtained for investigation of respiratory distress. Excision of the bronchogenic cyst is the preferred treatment.

As aggressive management of the pulmonary disease of newborns has developed, there has been a concurrent increase in injury to the airway or pulmonary parenchyma. Long-term intubation and high peak inspiratory pressure settings on the ventilator place these children at an increased risk of airway injury. It has been known since 1976 that perforation of bronchi, particularly the bronchus of the right lower lobe, can be prevented by careful measurement of suction catheters so that they do not extend more than 1 cm beyond the carina (53). The development of a bronchopulmonary fistula after chest tube evacuation of a pneumothorax can be life-threatening and may require surgical closure of the fistula, although some children have been successfully treated nonoperatively (54).

Complications of high-pressure ventilation include development of interstitial emphysema and bronchopulmonary dysplasia. The interstitial emphysema is usually self-limited, although some infants may benefit from a surgical approach to the problem (55). Surgery can be curative for granulomas within the airway of chronically intubated neonates, particularly if the lesions contribute to air trapping or stenosis. The best management for iatrogenic airway injury is prevention, and although not totally avoidable, careful attention to ventilator management and suction techniques should reduce the incidence and severity of these problems.

Development of the diaphragm is generally complete the 12th week of gestation, by which time the bowel has returned to the abdominal cavity. Failure of the development of the posterolateral portion of the diaphragm results in persistence of the pleuroperitoneal canal or foramen of Bochdalek, which allows the viscera to occupy the chest cavity, and the abdomen is underdeveloped and scaphoid. Both lungs are hypoplastic, more so on the side of the hernia. Bronchial branching, lung weight, and lung volume are decreased. The pulmonary arteries are hypoplastic (56,57). The lesion occurs in one of every 3,000 live births, with equal frequency in male and female infants. Sporadic occurrence is the rule, but a familial pattern has been reported (58,59).

The prenatal diagnosis of congenital diaphragmatic hernia (CDH) can be made using fetal sonography as early as 15 weeks of gestation (60). Sonographic findings include herniated abdominal viscera, abnormal anatomy of the upper abdomen, and mediastinal shift away from the herniated viscera (61). The high-risk fetus is identified by a diagnosis early in gestation, a dilated stomach in the chest, low lung-to-thorax ratio, low lung-to-head ratio, and polyhydramnios. Amniocentesis with a fetal karyotype identifies chromosomal defects; trisomy 18 and 21 are most common. More than 40% of newborns with CDH have associated anomalies of the heart, brain, limbs, genitourinary system, or craniofacial region (62).

Typically, babies with congenital Bochdalek hernia present dramatically with cyanosis (See Color Plate) and severe respiratory distress immediately after birth. Because the abdominal viscera are dislocated through the defect into the chest, the abdominal contour is scaphoid. Breath sounds are diminished or absent, and because the mediastinal structures have been displaced, the heart sounds are heard in the right chest. As the bowel fills with gas, respiration and cardiac action are further compromised, hypoxia and respiratory acidosis are increased, and death is inevitable unless appropriate intervention is undertaken. Congenital diaphragmatic hernia is no longer considered a surgical emergency unless the viability of the herniated bowel is in question. In some instances, the infants remain relatively asymptomatic in the early hours and days of life, and rarely, a diaphragmatic hernia is an incidental finding in an older child. The respiratory symptoms demand an immediate x-ray film, which is diagnostic. The hernia is on the left side in 90% of these infants, and the air-filled bowel is seen occupying the left hemithorax, with resultant displacement of the mediastinum to the right (Fig. 44-4). The abdomen is gasless. Additional x-ray films are unnecessary, and contrast studies for additional confirmation are contraindicated.

Many newborns with CDH have respiratory failure within minutes of birth, and urgent stabilization is mandatory to reverse hypoxia, hypercarbia, and metabolic acidosis. Prompt and aggressive preoperative care is essential (63,64). This generally includes mechanical ventilation with 100% oxygen, sedation with narcotics, muscle paralysis, controlled alkalosis with hyperventilation and intravenous sodium bicarbonate, and vasopressors. Permissive hypercarbia and gentle ventilation have proven effective in a number of centers. Regardless of the mode of therapy, the goal is to reverse the baby’s persistent pulmonary hypertension with right-to-left shunting of oxygen-poor blood across the open foramen ovale and the ductus arteriosus.

Some infants do not improve despite aggressive therapy, and many centers use ECMO before hernia repair to stabilize these desperately ill infants (65,66). Venovenous or venoarterial bypass is used, depending on the infant’s hemodynamic stability. Bypass is continued until the pulmonary hypertension is reversed and lung function is
improved. Most infants respond within 7 to 10 days, but some require up to 3 weeks of support. Newborns who have not improved after this time probably have such severe pulmonary hypoplasia that further extracorporeal life support is futile.

There are no absolute respiratory criteria that exclude newborns with CDH from consideration for ECMO support (67,68). Approximately 60% of infants with CDH who are supported by ECMO are expected to survive (see Chap. 32).

The surgical findings are usually those of a posterolateral defect in the left diaphragm, with most or all of the abdominal viscera in the chest. The surgeon reduces the hernia gently by withdrawing the viscera from the chest. If a sac is present, it is delivered and excised. There may be adequate diaphragmatic tissue to accomplish direct suture repair. If a significant portion of the diaphragm is lacking, prosthetic material is used to close the defect. Before completion of the repair, a small chest tube may be placed in the left hemithorax and brought out through an intercostal space.

The temptation to expand the compressed lung at the time of initial surgery must be resisted. Aggressive attempts at expansion can result in pneumothorax on the contralateral side, which, if unrecognized, is a disastrous complication.

The abdominal viscera have been located in the thorax throughout most of the developmental period of the fetus; thus, there is insufficient room within the abdomen to accommodate the intestine without dangerously increasing the intraabdominal pressure, compressing the vena cava, and compromising respirations by elevating the diaphragm. To avoid these potential problems, the surgeon may omit anatomic closure of the abdominal wall. Skin flaps are quickly mobilized, and only the skin is closed, or the abdomen is closed by creating a silastic silo as for gastroschisis or a large omphalocele. The ventral pouch created accommodates the intraabdominal organs; diaphragmatic action and venous return are unimpeded. The ventral hernia is repaired after the infant has been weaned off the ventilator and is in stable clinical condition.

Ten percent of infants with Bochdalek hernias present with the defect on the right side. The difference in incidence on the two sides may be explained by the presence of the liver, which partially blocks the pleuroperitoneal canal and limits the amount of bowel that can herniate into the chest. Symptoms in babies with right-sided hernias may be less severe, but when a right diaphragmatic hernia of Bochdalek presents as an emergency, it is managed as described.

After CDH repair and removal from ECMO, ventilation is continued with ventilation rates and oxygen concentrations necessary to maintain adequate oxygenation. Continuous transcutaneous oxygen monitoring of upper and lower body areas is useful. To avoid relapse into pulmonary hypertension, weaning from the ventilator should be achieved by making small incremental changes in the inspired oxygen and ventilator rate.

New modalities being investigated may offer an increased chance of survival for infants with CDH. These include surfactant replacement therapy, liquid ventilation, intratracheal pulmonary ventilation, and pulmonary lobar transplantation (69,70). Prenatal repair of the diaphragmatic hernia has been abandoned, as there was no improvement in survival or morbidity in a randomized trial. Current prenatal therapy of CDH is directed at occluding the trachea, which results in enlargement of the lungs with retained fluid. The baby is then delivered by planned cesarean section, at which time the trachea is repaired or intubated, with the baby remaining on placental support. Initial discouraging results with this technique have been improved with recent modifications; however, fetal tracheal plugging remains an experimental procedure that is being evaluated in a limited number of centers (71,72).

Babies who present after the first day of life with signs and symptoms prompting a diagnosis of diaphragmatic hernia are almost always hardier patients and have greater pulmonary reserve, and they can be expected to make a satisfactory recovery.

The anterior retrosternal hernia of Morgagni is rarely encountered in the newborn. The diagnosis is confirmed by chest radiograph in the lateral projection. The standard treatment is surgical reconstruction, beginning with an abdominal approach through a thoracoabdominal
incision. The prognosis is usually favorable, and these lesions are not associated with the severe cardiopulmonary complications seen with Bochdalek hernias in the neonatal period.

Eventration of the diaphragm may be congenital or acquired. The congenital presentation may mimic that of a congenital diaphragmatic hernia with a sac. The acquired lesion results from paralysis of the diaphragm, most commonly caused by operative trauma or birth injury (73).

Large eventrations and diaphragmatic paralysis are poorly tolerated by infants (74). Paradoxic cephalad motion of the diaphragm on inspiration produces a shift of the mobile, neonatal mediastinum that limits the function of the contralateral lung. Moderate or severe respiratory distress is evident; many newborns with eventration require ventilatory support.

Diagnosis is suggested by a marked elevation of a hemidiaphragm on a chest radiograph. Fluoroscopic examination identifies paradoxic movement of the diaphragm. Treatment is plication of the diaphragm with nonabsorbable sutures that reef up or overlap the diaphragm. The taut diaphragm results in less abnormal motion and improved ventilation.

The success story of the management of infants born with esophageal atresia and tracheoesophageal fistula is one of the most dramatic and satisfying that the pediatric surgeon, the neonatologist, and the pediatrician can point to. In the early 1900s, virtually all babies born with esoph-ageal atresia and tracheoesophageal fistula died. In 1941, Haight and Towsley were the first to bring an infant with esophageal atresia and tracheoesophageal fistula successfully through the rigors of primary transthoracic reconstruction (75). This landmark accomplishment occurred before antibiotics, respiratory support, or sophisticated intravenous nutrition were available. This surgical ap-proach formed the basis of modern operative and postoperative care of infants born with this anomaly. Fifty years after the first survivor was announced, every baby born with atresia of the esophagus who is spared coexisting fatal abnormalities and is offered appropriate care has an excellent chance of leading a normal life.