Prenatal screening

The presence of a CFM has a devastating effect on the child and the parents. Most of the time, the birth of such an infant may come with various issues, the most pressing of them being respiratory and feeding disorders. Though prenatal diagnosis of an anomaly might increase parental distress, it prepares them to accept the condition in a more objective manner (Sreejith et al., 2018) and helps the clinicians to anticipate and manage potentially life‐threatening issues (Evans et al., 2011) in the immediate postnatal period. Prenatal diagnosis is hugely beneficial in antenatal care, delivery, and postnatal planning, parental counseling, parental decision making, and management of parental expectations (Descamps et al., 2010; Maarse et al., 2018). This may even allow the prenatal referral of a case to a higher‐level center.

A prenatal ultrasonogram in the second trimester is the standard modality for screening and identification of fetal abnormalities (Mak and Leung, 2019), with an identification rate of 0–70% for cleft lip and palate deformities (Maarse et al., 2010), 7–72% for Robin sequence (Di Pasquo et al., 2017), and up to 60% for craniosynostosis syndromes (Harada et al., 2019). The huge variation in the predictive value of transabdominal ultrasound has been attributed to sonographer experience and challenges in cases involving decreased amniotic fluid volume, difficult fetal positioning, and maternal obesity. Moreover, the evaluation of the head, face, and neck can be limited by the interposition of the tongue and the acoustic shadowing caused by the ossification of facial structures (Zugazaga Cortazar and Martínez, 2012).

Fetal magnetic resonance imaging (MRI) is emerging as a potentially beneficial adjunct imaging modality for the prenatal diagnosis of congenital anomalies. The advantages of fetal MRI over ultrasound are increased soft tissue contrast and multiplanar capability, images that are not affected by amniotic fluid levels, maternal obesity, or fetal positioning (Descamps et al., 2010; Maarse et al., 2018), and the technique being less operator dependent. Fetal MRI has 91.7% sensitivity in the assessment of cleft palate, 100% sensitivity in the diagnosis of micrognathia associated with Robin sequence (Laifer‐Narin et al., 2019), and 88.9% sensitivity in cases of central nervous system anomalies (Gonçalves et al., 2016).

Support groups

The birth of an infant with CFM creates a psychological impact on the family and numerous centers have developed counseling and family support groups (Barden et al., 1989). These support groups educate and reassure parents that their baby will be well cared for, in a structured team environment, over several years, from birth to adulthood. This gaining of the parents’ trust forms an essential component of the integrated team approach, as parents should be active participants in the treatment protocol, preparing themselves and their child to confront the challenges that might arise in the ensuing years. Parents appreciate discussing issues with others who have had similar experiences and reviewing pre‐ and posttreatment records. This approach adds to the complex interdisciplinary interaction that aims to achieve more complete integration of all parties concerned with the care and pays attention to the needs of the extended family.

Genetic counseling

A CFM can occur as an isolated entity or be part of a syndrome. It is always beneficial to have a working knowledge of syndromology and medical genetics, as this will assist in looking for less visible abnormalities that are commonly associated with more visible cranial or facial aberrant features. For example, microtia, the second most common congenital CFM (Zim et al., 2017), is associated with other organ system disorders in up to 40% of cases (Wang et al., 2001) – 16% of which are renal structural abnormalities needing follow‐up (Koenig et al. 2018). Hence the team working closely with a clinical geneticist is very important, as it will assist in diagnosing the specific syndrome, which is important in the overall care of the patient. A genetic diagnosis will also throw light on the possibility of recurrence in future pregnancies. Recent advances in molecular genetics have made elucidation of the pathogenesis of many CFMs easier (Marazita, 2012; Yoon et al., 2016).

The clinical genetic examination starts by taking a careful history, doing a three‐generation pedigree, and conducting a complete physical examination and specific tests according to need. Karyotype analysis and fluorescent in situ hybridization (FISH), which have been used traditionally, look at the chromosome number and specific deletions and duplications. The newest technologies are specific enough to look at the individual base pairs of the DNA‐encoding proteins (Yoon et al., 2016).

Neonatal care

All infants born with CFMs should be examined from head to toe in a systematic manner. Particular attention should be paid to the cranial vault shape and suture patency, maxillomandibular relation, palatal clefting, tongue position, presence of stridor, and overall work of breathing (Bohm et al., 2016). Anomalies of the fetal head, face, and neck can result in severe functional impairment, many of which demand immediate attention – compromised airway, feeding difficulties, and issues with raised intracranial tension would lead to severe morbidity and mortality if left untreated.

The signs of acute airway obstruction include nasal flaring, tracheal tug, and intercostal, subcostal, or sternal recession. The raised intracranial pressure may be reflected as papilledema. A computed tomography (CT) scan of the head and face will throw light on the bony anatomy and help in planning the surgery. MRI is beneficial in cases of suspected central nervous system anomalies – hydrocephalus or Chiari malformation. The initial acute needs are addressed by the neurosurgeon, neonatologist, otolaryngologist, pediatric/maxillofacial surgeon, and a specialized intensive care unit.

Airway and feeding

Children with CFMs are uniquely prone to upper airway obstruction, due either to abnormalities in the position of the adjacent structures or anomalies in the airway itself. The presentation of a blocked or compromised airway could vary from mild stridor to sudden upper airway obstruction. The reported incidence of obstructive sleep apnea (OSA) in children with craniofacial anomalies is 28.2–50% (Pijpers et al., 2004; Lam et al., 2010; Paliga et al., 2014). The child may not be able to tolerate a supine position even in an awake state, or may turn cyanotic on feeding or crying. The baseline oxygen saturation on room air may be low, necessitating continuous oxygen support.

The team that manages these children should always be alert to the possibility of a blocked airway, especially in the neonatal period. Any failure to identify the condition or a delay in management would have devastating effects on the quality of life for these children. In addition to a detailed physical examination, bilateral nasal endoscopy can assist in assessing the patency of nasal passages – pyriform aperture stenosis or choanal atresia and a posteriorly placed tongue due to micrognathia are the most common causes for a compromised airway in children with CFMs (Bohm et al., 2016). Moreover, children with CFMs are highly susceptible to repeated respiratory tract infections, which can further compromise their airways. Children with CFMs are more prone to anomalies of the laryngotracheal complex. In cases where regular airway measures fail to maintain an adequate airway, the presence of tracheal stenosis or tracheal cartilaginous sleeve should be suspected, which could be confirmed with rigid bronchoscopy (Bohm et al., 2016). The possibility of further compromising the airway should be kept in mind in cases where some intraoral procedures like impression taking for a feeding plate are contemplated.

The management of a compromised airway is always customized depending on the degree of severity and the anatomical site of the obstruction. The decision to intervene early depends on clinical findings of difficulty in maintaining saturation, as well as feeding problems (Bohm et al., 2016). The necessary interventions could vary from positioning maneuvers – keeping the child in a prone position – to a surgical airway.

Congestion due to respiratory infections can be managed with topical vasoconstrictors. Noninvasive positive‐pressure ventilation or bag–valve–mask ventilation serve as short‐term measures of ventilation in cases where emergency intubation is not required. But maxillary hypoplasia and exorbitism (protrusion of the eyeball due to a decrease in capacity of the orbital container) make the fit of the mask difficult and the mouth might have to be held in an open position to get a seal (Nargozian, 2004). A nasopharyngeal airway is another temporary measure to deal with a short period of airway compromise, but carries the disadvantage of being a bulky measure in an already narrowed airway and may incite mucosal inflammation.

In cases of mandibular hypoplasia, patient positioning alleviates the airway block in a large majority of cases and a prone position is well tolerated in infants (Marques et al., 2001; Schaefer et al., 2004; Meyer et al., 2008). Additional measures to advance the mandible or floor‐of‐mouth musculature might be helpful to open up the airway. Lip–tongue adhesion (Kirschner et al., 2003; Denny et al., 2004; Rogers et al., 2011), glossopexy (Argamaso, 1992; Evans et al., 2006), and hyoid suspension among others are techniques aiming to advance the tongue and floor of the mouth to open the airway. As the patient is being prepared for these procedures, a tongue suture can be applied with which the tongue can be physically pulled to keep the airway open.

Acute airway obstruction not responding to these measures would require definitive airway management – orotracheal intubation or, in a case of long‐term requirement for airway intervention, a tracheostomy. Though orotracheal intubation is a straightforward procedure, it may pose difficulties in cases where there are congenital anomalies of the vertebral column. In infants with spine issues, extending the head for intubation would not be possible or would be hazardous. In such cases surgical airway/tracheostomy alone would be the option. Among children with CFMs, about 20% require tracheostomy and for a long duration, with a mean of 6.7 years (Perkins et al., 1997; Sculerati et al., 1998). The presence of a tracheostomy tube necessitates frequent care of the tube, as it carries the risk of accidental decannulation, tube block, infection, hemorrhage, pneumothorax, and issues with speech and swallowing (Carron et al., 2000; Carr et al., 2001).

Distraction osteogenesis (DO) is being increasingly used to advance the midface or mandible to relieve the airway obstruction in neonates with CFMs (Scott et al., 2011; Collins et al., 2014; Figures 8.1 and 8.2). The increase in airway dimensions allows for prevention or early decannulation of the tracheostomy. The complications of DO – namely, hardware failure, scar, and infection – are far fewer than the complications of long‐term maintenance of a tracheostomy (Bohm et al., 2016).

Pyriform aperture stenosis and choanal atresia are two other causes of airway obstruction in infants with CFMs that need thorough evaluation clinically and radiologically (Belden et al., 1999; Robson and Hudgins, 2003). The presence of both would require surgical correction, as infants are obligate nasal breathers and would fail to thrive if these were uncorrected. As the skull base may be abnormal, care should be exercised while doing endoscopic perforation and widening of choanal atresia to prevent an intracranial injury (Ramsden et al., 2009).

Because of the abnormal position/shape of the facial bones, especially the maxilla or mandible or both, nourishment may be inadequate, leading to failure to gain weight. They would require Ryle’s tube feeding if it is for a short period or feeding gastrostomy if the support is required for longer.

Raised intracranial tension

CFMs may involve premature fusion of one or more cranial sutures, causing craniosynostoses leading to raised intracranial pressure (ICP), visual impairment, and disturbances in functional and cognitive developments. The reduced intracranial volume, impaired cerebrospinal fluid (CSF) circulation and absorption, upper airway obstruction, and intracranial venous congestion contribute to an increase in ICP.

In the vast majority of cases symptoms of raised ICP may be nonspecific, like headache, irritability, vomiting, or bulging of the fontanelle. But in up to 38% of multisutural craniosynostoses (Figure 8.3), raised ICP may lead to symptoms such as visual impairment that require immediate intervention (Thompson et al., 1995; Stavrou et al., 1997; Langvatn et al., 2019).

The indicators for raised ICP are papilledema, a deflecting head circumference curve, headache, aggressive behavior, indentations/extensive endocortical erosions on imaging (“copper‐beaten appearance”; Figure 8.4), altered morphology of ventricles, and Chiari malformation (CM; Woods et al., 2009). Papilledema has been cited as a reliable indicator for the presence of raised ICP, though its absence does not rule out the condition (Tuite et al.,1996). The presence or absence of papilledema is detectable with routine fundoscopic examination. Visual evoked potential and ocular coherence tomography are more sensitive in the early diagnosis of intracranial hypertension (Swanson et al., 2020; Yamada et al., 2020).

CM is considered to result from underdevelopment of the posterior cranial fossa, although its hypoplasia does not necessarily lead to CM. CM can be present in a normal‐volume posterior cranial fossa as well (Sgouros et al., 2007; Loukas et al., 2011). CM type I is associated with CFMs and involves downward displacement of the cerebellar tonsils by more than 4 mm, beneath the foramen magnum into the cervical spinal canal. This displacement may block the normal pulsations of CSF between the spinal canal and the intracranial space. This mechanical obstruction of the CSF may result in hydrocephalus developing in 7–10% of cases of CM (Greitz, 2004).

The raised ICP warrants immediate intervention to reduce the elevated pressure by releasing the synostosed sutures and/or expanding the cranial volume by osteotomy or distraction osteogenesis. Strip craniectomy/suturectomy releases the synostosis and allows normal growth of the brain to mold the calvarium. In certain cases, molding with helmets may be needed (Figure 8.5) after suturectomy. The expansion of the crowded posterior cranial fossa can be achieved by osteotomy (Figure 8.6) or distraction osteogenesis (Figure 8.7). Following the release of pressure in the cranial fossa, it has been noted that the herniated cerebellar tonsils regain their normal position (Figure 8.8).

Follow‐up

Once the acute conditions – namely, airway patency, feeding efficiency, and intracranial tension – have been successfully managed, there follows a long period of follow‐ups. The issues to be addressed in these visits include esthetic appearance, speech forming, hearing ability, dental health, proper food intake, and psychological well‐being. Specialist clinicians should play their roles at specific times appropriate for the patient’s particular needs. These needs are established and constantly reviewed at regular team meetings of the interdisciplinary group, and this excellent level of coordinated communication is the keystone to interdisciplinary, interactive care. The importance of long‐term follow‐ups in a multispecialty center should be stressed to the patient and family, rather than there being several individual consultations.

The psychosocial needs of children with craniofacial anomalies and their families need to be constantly addressed. Speech and effective communication are other areas that need long‐term intervention. Speech issues could be precipitated by oral anomalies, respiratory compromises, or pharyngeal and laryngeal anomalies. Speech‐language pathologists aim to correct the abnormalities related to speech, production, fluency, language, cognition, voice, resonance, and hearing (Susanu et al., 2018).

Inability to maintain oral hygiene leading to mutilated dentition needs to be addressed early with the help of a pedodontist or restorative dentist. As almost all craniofacial anomalies involve jaw deformities, which are amenable to timely functional orthopedic and orthodontic treatment, orthodontists play an intrinsic role in their care (McCarthy, 2007). They are actively involved in infant presurgical orthopedics, early mixed dentition treatment, dentofacial orthopedics and orthodontics, adolescent/adult orthodontics, preprosthetic orthodontics, and pre‐ and postsurgical orthodontics. The yearly dental follow‐ups involve oral hygiene measures, restorations, obtaining needed radiographs, and identifying discrepancy in the growth pattern of the jaws or the eruption pattern of teeth, followed by the required interventions.

The rest of this chapter provides an overview of interdisciplinary team management of the most common CFMs, other than cleft lip and palate that forms the basis of Chapter 7. This chapter outlines major congenital orofacial malformations under the headings of otofacial malformations and craniosynostosis, with particular emphasis on the role of orthodontists in the interdisciplinary team.

Craniofacial microsomia

The term craniofacial microsomia, formerly also named hemifacial microsomia, describes a complex spectrum of congenital anomalies that primarily involve structures derived from the first and second branchial arches, either unilaterally or bilaterally (Ross, 1975; Converse et al., 1979; Kaban et al., 1981; Posnick, 2000). It is the second most common congenital syndrome of the head and neck region, after cleft lip and palate, with an incidence as high as 1 in 3500 live births (Munro and Lauritzen, 1985). The hypoplasia can manifest itself in any of the structures derived from the first and second branchial arches, accounting for the wide spectrum of deformities observed in this syndrome. This variable expression had resulted in numerous alternate names, such as Goldenhar syndrome, dysostosis otomandibularis, and occulo‐auriculovertebral dysplasia (Gorlin et al., 1990). The currently used terminology of craniofacial microsomia encompasses the varying degrees of presentation, such as underdevelopment of the mandible, maxilla, ear, orbit, facial soft tissue, and/or facial nerve leading to feeding difficulties, compromised airway, asymmetrical facial movements, and altered facial appearance. There could be asymmetry at the skull base itself.

Over the years, several methods of classification have been developed, describing the anatomical regions and grades of involvement (Posnick, 2000). The most accepted classifications are the Orbit, Mandible, Ear, Nerve, and Soft tissue (OMENS) classification (Vento et al., 1991; Table 8.1) and the SAT method, where S stands for skeleton, A for auricle, and T for soft tissue (David et al., 1987).

The etiology of this anomaly has been related to defects of neural crest cells (Johnston and Bronsky, 1995), and the most accepted mechanism involved in the etiopathogenesis is that of a vascular insult, with hemorrhage and hematoma formation in the developing stapedial artery in the first and second branchial arches, and subsequent maldevelopment (Poswillo, 1975; Soltan and Holmes, 1986). The mandible has long been considered the “cornerstone” of hemifacial microsomia (Kaban et al., 1981; Vento et al., 1991), as it is always involved and contributes to the natural course of skeletal asymmetry (Kaban et al.,1981, 1988; Polley et al., 1997; Kearns et al., 2000). The restricted growth potential of the affected hemimandible inhibits ipsilateral vertical maxillary development, resulting in progressive facial asymmetry (Figure 8.9). Mandibular hypoplasia may range from mild flattening of the condylar head to complete agenesis of the condyle, ascending ramus, and glenoid fossa. Because of the hypoplastic ramus, the mandibular plane angle is increased, the chin is deviated toward the affected side, and there is a corresponding cant of the mandibular occlusal plane, which is reflected onto the maxillary occlusal plane, as well as the levels of pyriform apertures (Figure 8.10).

Variable hypoplasia of the ipsilateral zygomatico‐orbital region is a common finding, occasionally resulting in orbital dystopia (Gougoutas et al., 2007). Because of their proximity, secondary involvement of skeletal structures not directly derived from the first and second brachial arch derivatives, like temporal bone, frontal bone, styloid, mastoid, and pterygoid processes, and cervical vertebrae, is inevitable (Converse et al., 1973). Involvement of the auricle occurs in most patients (Meurman, 1957; Figure 8.11). A combination of cutaneous and subcutaneous connective and neuromuscular tissue deficiency is most evident in the region of the external ear and eye, and the temporal, malar, and masseteric regions of the face, giving rise to a characteristic temporal hollowing and malar flattening (Figure 8.12). This characteristic appearance may be accentuated by muscular hypoplasia involving the muscles of mastication. Masticatory muscle function on the affected side may likewise be impaired. The maxillary and mandibular dentoalveolar complexes are reduced in the vertical dimension on the affected side, and exhibit crowding, delayed eruption of the deciduous and permanent teeth, and sometimes missing molars (Figure 8.13). Macrostomia or clefting through the oral commissure and hypoplasia of the parotid gland may also be present (Whitaker and Bartlett, 1990; Figure 8.14). Facial palsies have been estimated to occur in 22–45% of patients (Bergstrom and Baker, 1981; McCarthy, 1997; Figure 8.15).

Management

Management of hemifacial microsomia requires a comprehensive evaluation of the extent of the deformity. It is possible that functional appliance treatment and dental compensation may suffice in minor skeletal discrepancies, but moderate to severe skeletal problems will require surgical intervention. Treatment must proceed depending on the severity of the dysmorphism and the age of the child (Silvestri et al., 1996).

At a very young age no surgery is indicated, unless there is an airway disruption due to mandibular micrognathia, which is usually dealt with by tracheostomy or mandibular distraction (McCarthy et al., 1992; Boston and Rutter, 2003

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