Clefts of the lip or palate occur in approximately 1 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 nasomedial and lateral facial processes that normally takes place in the 6th to 7th 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. 41.1). 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 takes the form of an enlarged nipple aperture, a compressible bottle, a chambered (Haberman) nipple, 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-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 PRS is characterized by retrognathia or micrognathia (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, which may include 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 and can be effective. A nasal airway can provide temporary relief. 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. For appropriately selected candidates, mandibular osteotomies and distraction can address the issue directly. Tracheotomy placement 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.

Congenital neonatal neck lesions are far more common than infectious or neoplastic lesions, and most arise from aberrant development of the branchial apparatus, a series of grooves, pouches, and arches that contribute to the development of the ears, lower face, and neck structures.

Midline thyroglossal duct cysts most commonly present later in childhood but can appear in newborns as a midline cystic neck mass that characteristically ascends with swallowing. These anomalies are embryologic remnants of the developing thyroid gland as it descends from the foramen cecum of the tongue to the midline of the neck. The tendency for repeated infection warrants removal of thyroglossal duct cysts sometime during childhood along with the intimately associated midline segment of the hyoid bone via a Sistrunk procedure (Fig. 41.2).

Branchial arch anomalies are characteristically located at the anterior midlevel border of the sternocleidomastoid muscle and may present as cysts, sinus tracts, or fistulae. Surgical excision is usually indicated due to recurrent drainage and infections. Second branchial cleft cysts are most common and often present with a sinus tract extending to the skin or to the tonsillar fossa. First branchial cleft anomalies with an internal communication drain to the
middle ear or external auditory canal while third and fourth branchial arch anomalies drain to the hypopharynx or the esophagus.

Preauricular skin tags and preauricular sinuses arise due to abnormal formation of the ear hillocks during the 6th week of gestation. Infants with preauricular pits have a slightly higher risk of sensorineural hearing loss (4). Preauricular pits are usually isolated but if hearing loss is also present, genetic testing for EYA1 and SIX1 is indicated to exclude branchiootic or branchiootorenal syndrome. Unsightly skin tags and cartilage rests may warrant removal for cosmetic reasons. For pedunculated lesions, this can be completed by placing a constricting suture around the narrow base in the newborn nursery, much to the delight of the parents. Preauricular sinuses are benign, blind-ending pouches that are only removed during childhood, if they repeatedly become infected.

Lymphatic malformations are the most common cervical vascular anomalies seen in the newborn period, although cervical hemangiomas, arteriovenous, and venous malformations may also occur during this time. Eighty percent of lymphatic malformations arise in the neck and represent sequestered lymphatic channels that fail to communicate with larger lymphatics or draining veins (Fig. 41.3). Nearly half of LMs are evident at birth with most of the remaining lesions appearing during the first decade of life. These soft, cystic congenital anomalies are classified as macrocystic, microcystic, or mixed lesions and characteristically insinuate themselves around critical vessels and nerves. LMs may partially or completely shrink, but this appears to be limited to macrocystic lesions and occurs in fewer than 15% of cases. Conversely, LMs can undergo sudden and rapid enlargement from internal bleeding or infection that can progress to sepsis. Massive LMs of the upper aerodigestive tract can cause airway obstruction necessitating tracheotomy tube placement. Fortunately, most LMs of infancy are asymptomatic, cosmetically deforming lesions for which treatment can usually be deferred until after 6 months of life. Macrocystic lesions are most amenable to sclerotherapy under general anesthesia; and OK432, doxycycline, and ethanol are the most common agents used (5). Bleomycin has recently shown some efficacy for microcystic lesions, although most require surgical excision with an attendant risk of neuropraxia and recurrence even in the most fastidious of hands. Infants with massive LMs require multiple surgical and medical interventions over the course of many years to achieve a favorable outcome. Sirolimus, an mTOR pathway inhibitor, may prove a promising treatment for select patients with massive LMs, but additional trials are warranted (6).

Evaluation of the newborn in respiratory distress requires prompt assessment of the severity of the problem and its potential etiology(ies). Nasal flaring, tachypnea, use of accessory muscles of respiration, and suprasternal retractions are all signs of respiratory distress. The presence of stertor or stridor indicates anatomic obstruction; however, in advanced cases of obstruction, the breathing may be deceivingly quiet as the respiratory effort and air movement decline. In obstructive lesions, CO₂ levels rise before oxygen levels decline, and by the time hypoxemia occurs the airway obstruction may be markedly advanced.

Precise assessment of the respiratory sounds helps to determine the site of the obstruction. Stertor is a low-pitched “snorty” sound that arises from nasal, nasopharyngeal, or oropharyngeal obstruction and can be heard with a variety of congenital conditions described below. Nasal causes of obstruction can be particularly severe since most infants are obligate nasal breathers for the first several weeks to months of life. Stridor is higher pitched than sterdor and arises from turbulent airflow passing through an obstructed larynx or trachea. Correlating the stridor’s relationship to the respiratory cycle helps to identify the site of obstruction: inspiratory stridor arises from constricted airflow above the vocal cords; expiratory stridor arises from obstruction below the vocal cords; and biphasic stridor usually arises from lesions at the level of the vocal cords. Interestingly, the most commonly recognized causes of stridor in infants including laryngomalacia, subglottic stenosis, and subglottic hemangiomas, do not manifest immediately upon birth but appear days to months later. Stridor present immediately upon delivery is nearly always due to one of the three causes: an obstructing laryngeal cyst, a glottic web, or bilateral vocal cord paralysis; all conditions that, in severe cases, may require emergent airway control with intubation, laryngeal mask, or tracheotomy prior to investigating the actual cause of the obstruction.

Neonates with stridor who do not require emergent airway management should undergo a bedside flexible fiberoptic nasopharyngolaryngeal examination to assess the airway to the level of the vocal cords. Cardiac and pulse oximetry monitoring are advisable and blow by oxygen should be available, although infrequently needed. Lesions below the vocal cords arising from the subglottis, trachea, or bronchi require rigid bronchoscopy under general anesthesia with spontaneous respirations so that airway dynamic can be assessed. Direct visualization under general anesthesia is superior to imaging by MR, CT, cervical radiographs, or ultrasound. The infant’s unique ability to simultaneously breathe and suckle is often hindered by airway obstruction and some degree of feeding difficulty typically accompanies airway anomalies. A modified barium swallow study or bedside Feeding Endoscopic Evaluation of Swallowing (FEES) with a speech pathologist is indicated, if concerns of aspiration are present.

If respiratory distress from the obstruction is severe, emergent airway intervention is necessary even before establishing the cause of the airway condition. Respiratory distress may be managed with
blow by oxygen, mask ventilation, placement of a laryngeal mask airway (LMA), or endotracheal intubation. An LMA is preferable to intubation for neonates in whom direct visualization of the larynx is difficult, notably those with micrognathia, midface hypoplasia, macroglossia, or cervical spine anomalies. A neonate may be intubated over a small fiberoptic flexible telescope passed through the LMA, if its oral side has been modified to allow passage of an endotracheal tube. The mean diameter of the subglottis of a term neonate of normal weight is 4.5 mm so should easily accommodate a 3.0 oral endotracheal tube, which has an outer diameter of 4.3 mm (7). Preterm babies should be intubated with a smaller sized tube. Uncuffed tubes are much preferred over cuffed tubes and a peritubal leak should be present at pressures of 25 to 30 mm Hg to reduce the risk of acquired subglottic or tracheal stenosis.

Pyriform aperture stenosis (PAS) is a rare entity in which overgrowth of the medial nasal process of the maxilla leads to nasal obstruction (Fig. 41.4). The pyriform aperture is the narrowest region of the nasal airway, and thus, small decreases in the crosssectional area can significantly decrease nasal airflow. Symptoms may range from mild nasal congestion, to difficulty feeding, to periods of apnea and respiratory distress. If conservative measures of nasal humidification with saline and decongestion with oxymetazoline fail, surgical excision of the bony overgrowth is indicated, and is often combined with postoperative nasal stenting (8). PAS can be associated with a central maxillary incisor, which may be present with other congenital midline anomalies.

A deviated nasal septum from intrauterine pressure or birth trauma may cause marked nasal obstruction in the newborn. The columella is tilted and anterior rhinoscopy demonstrates the septum deviated off the midline groove of the maxillary crest (9). External deformity of the nose may also be present. Radiographic imaging is not necessary as clinical exam is diagnostic. If acutely deformed during the delivery process but not displaced off the crest, the septum may return to the midline over the first several days of life. However, should the septum be deviated off the crest, gentle reduction under general anesthesia is indicated to improve breathing and to prevent the need for a septoplasty later in life. Nasal trauma may also cause a septal hematoma evident by a wide septum filling the nasal cavity. A septal hematoma requires emergent drainage to prevent cartilage destruction and resultant saddle nose deformity.

Choanal atresia is the congenital absence of a communication between the posterior nasal cavity and the nasopharynx, most commonly caused by a bony plate at the posterior nasal choana. The incidence is approximately 1/5,000 to 8,000 live births. Diagnosis is suspected by inability to pass a 6-French catheter beyond 4 cm into the nasopharynx and is confirmed by CT scan (Fig. 41.5). It is critical to suction the nose immediately before the CT scan to differentiate mucus from an atretic plate. Females are affected more often, and unilateral disease, particularly on the right, is more common than bilateral disease. Importantly, 50% of patients with choanal atresia, particularly bilateral disease, will have other associated anomalies, the most common of which is
CHARGE association (coloboma, heart defects, choanal atresia, growth and mental retardation, genitourinary anomalies, and ear anomalies). Unilateral atresia usually presents with recalcitrant purulent rhinorrhea in infants or toddlers rather than neonatal airway obstruction. Unlike unilateral disease, bilateral atresia causes acute and severe respiratory distress in the neonate. Surgery is indicated to open the posterior choana(e) and establish a connection to the nasopharynx; and in bilateral cases, this is often urgent. Endoscopic techniques are most commonly used and postoperative stenting is controversial (10). A McGovern nipple forces the neonate to breathe through the mouth until surgery can be completed and is a viable alternative to intubation.

Midline nasal masses include dermoids, encephaloceles, and gliomas that arise due to faulty embryogenesis in the 3rd week of gestation and may appear as a bulge in the midline nose, lateral nasal bridge, or forehead or as a pit anywhere along the nasal dorsum. Intracranial communication can occur with any of these anomalies. Transillumination, compressibility, and enlargement of the mass with crying are suggestive of an encephalocele with cerebrospinal fluid (CSF) communication. Gliomas and dermoids are solid lesions so lack communication with the CSF but may still have an intracranial stalk in up to 45% of cases. Surgical excision of midline nasal masses is indicated and requires careful preoperative planning and collaboration with neurosurgery to determine if an intracranial communication is present. A child with a midline nasal lesion should undergo both MR and CT imaging since the studies complement each other. The finding of a large foramen cecum, wide septum, and bifid crista galli on CT scan imply an intracranial connection even if one is not evident on MR imaging. Early surgical excision is indicated for encephaloceles due to the risk of meningitis otherwise excision or other midline masses may be deferred until preschool age.

Sometimes referred to as “NOWCA,” this obstruction is felt secondary to nasal mucosal swelling and is usually a self-limited condition treated with saline drops, topical decadron, and tincture of time. It can be very symptomatic for the obligate nasal breather but does not require surgical intervention.

The 4.5:1 cartilaginous:membranous ratio of the normal horseshoe-shaped trachea is decreased in infants with tracheomalacia and the wide posterior membranous wall allows collapse of the trachea (Fig. 41.13). Tracheomalacia may be primary (intrinsic)
or secondary (extrinsic) due to external compression. Virtually, all patients with TEF have some degree of tracheomalacia. Expiration is compromised and symptoms vary widely in their severity and include chronic cough, wheezing, recurrent pneumonia, respiratory distress, and, in some cases, reflex apnea. The resultant cough is “barky” in nature due to the turbulent airflow created by the collapsing trachea. Tracheomalacia is evident on cine CT in a nonintubated infant, but the diagnosis is best made by bronchoscopy under spontaneous ventilation. Medical management includes chest physiotherapy and antibiotics for exacerbations as the trapped secretions often become secondarily infected. CPAP or bipap is useful in maintaining tracheal patency. Although infants outgrow tracheomalacia, often by 2 years of age, surgical intervention with either tracheotomy or aortopexy is indicated for severe cases that demonstrate reflex apnea, recurrent respiratory distress, or recurrent pneumonia.

Congenital lobar emphysema (CLE) usually affects one lobe and can be life threatening as a result of severe hyperexpansion. The underlying cause of the disorder is air entry into the affected lobe on inspiration and air-trapping during expiration. Lobar overexpansion occurs with compression of adjacent pulmonary parenchyma and mediastinal displacement. CLE can occur as the result of bronchial stenosis, bronchiomalacia, luminal obstruction, or extrinsic compression of the airway by a mass or bronchogenic cyst. A chest radiograph shows hyperlucency of the affected lobe associated with atelectasis of the adjacent normal lung and mediastinal shift away from the affected side (Fig. 41.14).

The left upper lobe is the most commonly affected lobe followed by the right middle lobe and then the right upper lobe. The lesion is rarely bilateral (35). The management of CLE depends on the presence of symptoms. If asymptomatic or only mildly symptomatic, patients can be successfully observed without requiring surgical resection. For patients with progressive respiratory distress, emergent thoracotomy and lobectomy are required. Patients with CLE can also develop persistent or recurrent pneumonias requiring elective resection.

Congenital pulmonary airway malformation (CPAM) refers to a group of lesions characterized by the abnormal development of pulmonary parenchyma. Lesions with cystic replacement of lung parenchyma are also known as congenital cystic adenomatoid malformations (CCAMs) in older terminology. CCAMs usually arise from a single lobe of the lung and most commonly involve the left lower lobe. Lesions with a systemic arterial feeding vessel are called bronchopulmonary sequestrations (BPS). This nonfunctional pulmonary tissue can be intralobar, extralobar, or intra-abdominal. Lesions with both cystic features and systemic arterial blood supply are termed hybrid lesions.

CPAMs are most commonly diagnosed by prenatal ultrasound. The cyst volume ratio (CVR) was developed to help risk stratify lesions. The CVR is the ratio of the volume of the congenital airway malformation divided by the head circumference as measured by prenatal ultrasound. Lesions with a CVR greater than 1.6 are associated with a higher risk for fetal hydrops (36). Since CPAMs have the capacity for unpredictable growth during midgestation, fetuses must be followed closely with serial ultrasound to document interval growth of the lesion until it plateaus and the normal lung growth exceeds that of the lesion. Fetuses with high-risk lesions are candidates for in utero maternal steroid administration to arrest growth of the lung lesion (37). High-risk lesions that do not respond to maternal steroids and are associated with hydropic changes may be candidates for fetal resection of the lesion. Large macrocystic lesions causing hydrops are best treated with in utero thoracoamniotic shunt placement (38).

Most pediatric surgeons recommend postnatal surgical resection of these lesions because of the risk of infection and malignancy (39). The timing of resection is based on the presence of symptoms at birth. Most infants are born asymptomatic and resection can be preformed electively between 2 and 6 months of age via a thoracoscopic approach or thoracotomy (40). CT scan of the chest with contrast is obtained postnatally to confirm the diagnosis and identify any systemic feeding vessels prior to surgery (Fig. 41.15). Infants with symptomatic lesions require immediate resection of the involved lobe; and this is typically preformed via thoracotomy because of the larger size of these lesions.

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 abdominal viscera to occupy space in the chest cavity creating a mass effect that impairs normal lung development. Eighty percent of defects occur on the left side and 20% occur as right-sided defects. The pathophysiology of Congenital diaphragmatic hernia (CDH) relates to the resultant pulmonary hypoplasia. The hypoplastic lung is not only small but lacks the normal bronchiole branching pattern, alveolar surface area,
and pulmonary vascular structure (41). The pulmonary arteries are hypermuscular with increased pulmonary vascular resistance and reactivity, characteristic of pulmonary hypertension.

The majority CDH cases are diagnosed by prenatal ultrasound. Sonographic findings include herniated abdominal viscera, mediastinal shift with abnormal heart position, or pleural effusion (42). Right-sided defects are harder to diagnose prenatally, because it is difficult to distinguish herniated liver from the right lung. Various prenatal lung measures have been developed to help stratify patients and predict postnatal outcomes (e.g., lung-head ratio [LHR], observed to expected LHR, and observed to expected total lung volumes) (43). Prenatal diagnosis allows for optimal delivery planning. Delivery of infants with CDH should take place at institutions with experience in support of these infants and access to pediatric surgical support and extracorporeal membrane oxygenation (ECMO). The overall goal in delivery room management and transport is to minimize perinatal stress and prevent events that trigger pulmonary vasospasm and the clinical decline that is difficult to reverse.

Infants with known CDH are immediately intubated at birth and a nasogastric tube placed to decompress the bowel. Infants with CDH who have not been diagnosed prenatally present with respiratory distress at birth and the diagnosis is made by the presence of bowel within the chest on x-ray (Fig. 41.16). Infants with small hernia defects may be asymptomatic at birth. In these cases, CDH is often diagnosed incidentally when a chest x-ray is obtained for another reason.

The initial goal in management is support of gas exchange and prevention of a pulmonary hypertensive crisis. Permissive hypercarbia and gentle ventilation have proven effective in maintaining adequate oxygenation and ventilation without injuring the hypoplastic lungs. Surgical repair of the diaphragm is delayed until the pulmonary hypertension resolves or at least until it improves significantly and the infant requires less mechanical ventilatory support.

ECMO is used to support the CDH infant only when standard therapy fails. Venoarterial bypass is used and continued until the pulmonary hypertension is reversed and lung function is improved. Most infants improve within 7 to 10 days, but some may require longer support. Failure to improve after 2 to 3 weeks is indicative of severe pulmonary hypoplasia and may not be survivable.

Surgical repair is generally preformed via an open abdominal approach. The surgeon reduces the abdominal contents from the chest back into the abdomen and the edges of the diaphragm are identified. If adequate diaphragmatic tissue is available, the edges are sutured together primarily. If diaphragm tissue for repair is lacking, prosthetic material is used to fashion a patch to reconstruct the diaphragm and close the defect. After CDH repair, ventilatory support is gradually weaned and enteral feedings initiated.

The reported survival for isolated CDH ranges from 70% to 90% overall with survival rates decreasing to 50% when patients require ECMO. Infants with severe CDH have a higher incidence of associated respiratory, neurologic, GI and nutritional morbidity (44,45,46,47). Many high volume centers have created specialized multidisciplinary follow-up clinics to address the complex needs of this population of survivors (48).

Eventration of the diaphragm may be congenital or acquired. The congenital presentation may mimic that of a CDH with a sac. The acquired lesion results from paralysis of the diaphragm, most commonly caused by operative trauma or birth injury (49).