A newborn male, day of life 0, presented with respiratory distress requiring intubation. He was noted to have low set ears, micrognathia, and a cleft palate. Upon closer examination, he was also noted to have a right-sided complete aural atresia and the left canal is stenotic. His midface appeared hypoplastic and he was noted to have a cleft palate. A genetics consult was obtained and the patient was diagnosed with Treacher Collins syndrome (Figure 34-1). Surgical repair of palate was performed at 10 months of age, and a softband bone conduction device was provided in infancy for hearing habilitation. The family was counseled regarding ultimate options for reconstruction of microtia and aural atresia.

Congenital anomalies in the head and neck are numerous and varied. In this chapter, we provide a general approach to the diagnosis and management of children with these anomalies and then outline an anatomic approach to considering these abnormalities using some illustrative photographs of those commonly encountered or unique entities.

Consensus terminology is critical for discussion. An anomaly is a structural or functional defect, which is present at the time of birth. A malformation is a major defect that is the result of incorrect morphogenesis. A sequence is a series of defects that occur in a nonrandom fashion. A single event then leads to a series of malformations. Pierre-Robin sequence is an example of a sequence. An association is encountered when there is a tendency of some malformations to occur together more commonly than would be expected by chance, but are not considered to be a part of an established malformation syndrome. An example is the CHARGE association, which includes coloboma, heart anomaly, choanal atresia, retarded growth, genital, or ear anomalies.¹

Clinical Features

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  Congenital anomalies in the head and neck are common and a thorough head and neck examination is recommended.

  
  
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  An initial airway evaluation for signs of distress or obstruction is essential. This includes observation of retractions and desaturations, listening for stridor, stertor, as well as evaluation of the voice. Stridor is generally a higher pitched sound and can occur during inspiration, expiration, or both. Stertor sounds more like snoring and occurs on inspiration, and is more indicative of obstruction in the nasal cavity, nasopharynx, or oropharynx. A hoarse, quiet, or raspy cry may indicate vocal cord pathology such as cord immobility or mass.

  
  
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  Noting abnormalities in the general appearance of the infant such as facial asymmetry, low set ears, or down-slanting palpebrae may help to identify syndromic pathology. Skin changes such as skin tags, sinuses, and vascular malformations should be noted.

  
  
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  The ear exam should include not only evaluation of the pinnae, but also assessment of canal patency for atresia. Routine examination of the tympanic membrane and middle ear is also critical. A newborn hearing screen with consideration of both auditory brainstem responses and otoacoustic emissions testing should be discussed with an audiologist or neonatologist if appropriate.

  
  
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  External nasal examination should include evaluation for pits or central hair, which could be indicative of a nasal dermoid. Anterior nasal rhinoscopy can be performed using an otoscope to assess for nasal mass or lesion. If there is suspicion for nasal obstruction, a 5 or 6 French catheter should be passed. If resistance is met, this may indicate intranasal obstruction. The need for nasal endoscopy can be determined by referral to a pediatric otolaryngologist.

  
  
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  An oral exam should include visual inspection of the whole oral cavity and posterior oropharynx as well as bimanual palpation of the floor of mouth and assessment of the infant’s lip and palate.

  
  
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  The neck should be evaluated for masses, pits, or draining sinuses.

  
  
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  As several craniofacial syndromes are associated with ocular abnormalities, routine exam of the eyes should be performed and ophthalmology consultation obtained if needed.

  
  
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  Any infant with suspected upper airway anomaly should be examined by a pediatric otolaryngologist. In the patient who is awake, a bedside flexible nasolaryngoscopy allows for a dynamic airway exam. If warranted, a complete airway evaluation in the operating room includes a direct laryngoscopy with rigid and/or flexible bronchoscopy. The need for such an exam depends on the clinical scenario and is a decision to be made by the consulting otolaryngologist.

Laboratory Data

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  Various laboratory data and genetic testing may be obtained depending upon the identified anomaly. This is tailored to the patient and made in conjunction with neonatology, genetics, and other specialty team members.

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  The management of congenital abnormalities is specific to each pathologic process.

  
  
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  A genetics consultation should be initiated if multiple anomalies are identified or if a syndrome is otherwise suspected.

  
  
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  The appropriate consultations to an otolaryngologist, ophthalmologist, plastic surgeon, or other pediatric specialists will guide nonsurgical and surgical management.

  
  
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  While cosmetic concerns may be most immediately apparent, functional anomalies related to airway, feeding, vision, and hearing should be prioritized.

The more common head and neck anomalies will be discussed by anatomic site. A tabular summary will include basic epidemiology, evaluation, and management.

Congenital Nasal Anomalies (Table 34-1; Figures 34-2 to 34-4)

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  Embryology—At approximately 3 weeks of gestation, the nasal placodes develop as invaginations of neural crest cells from the frontal prominence into nasal pits. These deepen to eventually create medial and lateral nasal prominences. Posteriorly, the nasobuccal membrane forms to separate the nasal and oral cavity. Failure of this membrane to degenerate causes choanal atresia.^2–4

  
  
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  The medial nasal prominence will fuse in the midline forming the columella, philtrum, and primary palate. The maxillary prominences fuse in the midline posteriorly creating the secondary palate (posterior to the incisive foramen) and to the medial nasal prominences anteriorly forming the upper lateral lip. Failure of all three fusions to occur (medial nasal prominence to maxillary prominences, left and right, and maxillary prominences in the midline) will create a bilateral complete cleft lip and palate.^2–4

  
  
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  Between the superior aspect of the nasal bone and the inferior aspect of the frontal bone there is a transient fontanelle. A pyramidal shaped extension of dura extends inferiorly toward the osseocartilaginous junction of the nasal bridge. This is temporarily congruent with the epidermal elements of the nasal dorsum and protrudes through the skull base at the foramen cecum. Failure of these layers to separate can cause a variety of midline nasal masses such as dermoids and neurogenic nasal deformities.^3,5

Congenital Ear Anomalies (Table 34-2; Figures 34-5 and 34-6)

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  Embryology—The otic placode is present at the third week of gestation. The auricle is derived from the six hillocks of His, from the first and second branchial arches, that are present by the sixth week of gestation. These form the tragus, antitragus, antihelix, helix, lobule, and the helical crus. The hillocks have fused by week 12. Cartilage formation begins in the 7^th week of gestation.⁶

Congenital Oral/Oropharyngeal Anomalies (Table 34-3; Figures 34-7 through 34-13)

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  Embryology—The mandible is derived from Meckel’s cartilage, which is the lower portion of the first branchial arch. Development takes place from the 4th to 10th week of gestation. The tongue is actually derived from branchial arches 1 to 4 as well as occipital stomites (masses of mesoderm along sides of neural tube). The tongue originally forms in the nasal cavity and as the palatine shelves join in the midline, the tongue is pushed inferiorly into the oral cavity. See the preceding nasal/oral embryology for more detail. In the setting of Pierre Robin Sequence, it is hypothesized that relative macroglossia prevents the palatine shelves of the maxillary prominences from fusing, creating a midline cleft palate.¹²

Congenital Cervical Anomalies (Table 34-4; Figures 34-14 through 34-18)

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  Embryology—The thyroid gland forms from a diverticulum arising between the anterior 2/3 and posterior 1/3 muscle tongue. This descends caudally, anterior to the hyoid, and fuses with fourth and fifth branchial pouches to form the thyroid.¹³ The branchial arches are responsible for much of the musculoskeletal and neural development of the head and neck. Branchial anomalies result from incomplete obliteration of the clefts and pouches, and are classified by the cleft or pouch of origin. The origin affects the location of associated fistulae and relationship to nerves, arteries, and muscles. This has clear relevance for surgical resection. Branchio-oto-renal syndrome is a classic example of a genetic cause for congenital branchial arch abnormalities.

  
  
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  Branchial anomalies can present as cysts, sinuses, or fistulae. Cysts have no external opening, sinuses open to the skin, and fistulae have a skin opening and an opening into the pharynx.