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52
E. K. Yardımcı et al.
After a diagnosis of CNPS has been made, initial care often consists of conservative measures such as topical nasal decongestants, humidication, the insertion of
an oral airway, and lavage feeding. When this does not work, surgery via a sublabial
technique to enlarge the bone inlet is considered [11].
4.2.3 Cleft Lip Nasal Deformity
A cleft lip and/or palate is one of the most common congenital nose defects [2].
Patients with cleft lips, including those with incomplete clefts, almost always have a
degree of nasal malformation. Cleft lip and nasal deformities are frequent, although
the degree to which they manifest depends on the severity of the lip deformity. The
degree of nasal malformation on either side of the face in those with bilateral clefts
is proportional. Defects in the alar cartilage on the cleft side, the septum, the columella, the nasal tip, and the entire nasal pyramid all contribute to nasal deformity.
Signicant contributions to nasal asymmetry come from the malposition of maxillary segments, maxilla hypoplasia, and maxilla clefting. Structural and functional
abnormalities also inuence nasal deformity in the orbicularis oris muscle [2, 12, 13].
Cleft lip and nasal deformity treatment options include primary and revision rhinoplasty. When repairing a cleft lip for the rst time, many surgeons re-drape the skin
and soft tissue envelope over the lower lateral cartilage. A more medial anchoring of
the skin-soft tissue envelope on the lower lateral cartilage may help restore the nostril’s rounded look. This amendment further denes the tip subunit. Later, during a
second treatment, the alar base is repositioned using a chondrocutaneous sliding ap
procedure, which is frequently paired with installing a columellar strut or shield graft
to project the columella, which has been abnormally shortened. There are typically
several steps involved in this secondary process. Stage 1, which occurs between ages
4 and 6, focuses mainly on esthetic enhancement. Stage 2, typically completed
between the ages of 8 and 12, follows the completion of orthodontic treatment and
aims to provide an ideal skeletal structure. It is best to wait until skeletal maturity for
a more permanent rhinoplasty. Therefore, it is done between the ages of 16 and 18.
There have been cases of both open and closed rhinoplasty [2, 12].
4.2.4 Nasolacrimal Duct Cysts
Twenty percent of neonates are born with a deciency in nasolacrimal drainage, but
dacryocystocele, the most severe variant, is exceptionally uncommon. It occurs in
approximately 2% of all births. Ninety percent of dacryocystoceles occur on one
side only [2].
Differentiating tumors and locating intracranial communication are aided by CT
and MRI imaging. CT is simple and fast, and the diagnostic features include cystic
dilatation of the lacrimal sac, NLD dilatation, and the appearance of a homogeneous, well-dened, thin-walled, uid-attenuating mass in the intranasal cavity
[14]. Even though MRI can characterize the lesion’s substance without exposing the
patient to radiation, CT is the preferred imaging method.
4 Congenital Anomalies oftheUpper Respiratory Tract
53
Most cases of asymptomatic dacryocystocele are cured spontaneously by age
one [15], making conservative management with lacrimal sac massage an option.
When symptoms of dacryocystitis manifest, including pain, fever, purulent discharge, and congested eyes, it is necessary to administer broad-spectrum antibiotics.
Cellulitis of the orbit and face can be a complication of untreated dacryocystitis
[15]. Excessive swelling of the lacrimal sac can cause persistent canthal asymmetry
and anisometropic amblyopia by narrowing the lid ssure or causing corneal astigmatism. Patients with large exterior or intranasal cysts who develop apnea or stridor
may require surgical procedures such as lacrimal probing by an ophthalmologist
and intranasal endoscopic cyst marsupialization by an otorhinolaryngologist [16].
4.2.5 Encephaloceles
A meningocele or meningoencephalocele is an abnormal protrusion of the meninges (the membranes surrounding and protecting the brain) outside the cranium.
Encephalocele occurs in about 1in 35,000 births worldwide but is nearly six times
more common in Southeast Asia, where it is reported in 1in 6000 births. Its etiology
is unknown, but a herniation may cause it because of improper closure of the fonticulus frontalis. The sporadic occurrence of encephaloceles in families with a history of central nervous system (CNS) developmental defects [2, 17] suggests a
genetic component to the disease’s etiology. Due to the importance of embryological development, an encephalocele should be investigated in the differential diagnosis of any nasal, maxillofacial, or frontal tumor in a newborn. With a median age of
presentation between 15.5 and 21months, it is pretty unusual for an encephalocele
to be diagnosed in a patient who is signicantly older than average [18].
Nasal endoscopy is crucial to the diagnostic process since it provides insight into
the nasal mass’s origin, location, and size. MRI is helpful for dening soft tissue
connections to the CNS, while a CT scan is excellent for assessing the bone structure of the skull base. Contrast enhancement and sagittal reconstruction are also
helpful imaging aides for encephaloceles [2, 19].
Traditional neurosurgical treatment for encephaloceles has been a transcranial
approach, which carries the risk of complications like loss of smell, post-operative
intracerebral hemorrhage, cerebral edema, epilepsy, and frontal lobe dysfunction,
which can lead to memory and attention problems [19, 20]. With the development
of endoscopic sinus surgery, doctors can now treat basal encephaloceles with a lessinvasive intranasal technique [20].
4.2.6 Dermoids oftheNasal Cavity
Nasal dermoid and sinus cysts (NDSCs) are uncommon congenital abnormalities.
They are the most prevalent congenital nasal midline lesions [2, 21]. Midline nasal
dermoid cysts and stulas occur in 1in 20,000 to 1in 40,000 people [22] annually.
In children, NDSCs account for 61% of median lesions [23], 11% of dermoid cysts
in the head and neck, and 1% of dermoid cysts overall. Some NDSCs also have a
54
second stula in the inner canthus, and the stula orice is usually found on the
nose’s median line. However, it can also be found on the face’s median line, between
the eyebrow and the nasal columella. In severe cases, patients may experience complications such as meningitis, cellulitis, osteomyelitis, cerebrospinal uid leakage,
frontal abscess, dead bone formation, and inward growth of the lesions that can
reach the nasal bone ossication center. The stula presents as a needle-like orice
with a white cheese-like substance or ne hair discharged after extrusion. The cyst
presents as an elastic round mass at the median line of the nose.
Symptoms and indicators, along with imaging tests like CT and MRI, are used to
make a diagnosis. Most cases of NDSCs require surgical intervention. Optimal
access for the removal of the cyst, stula, and sick bone tissue; restoration of the
skull base to cease cerebrospinal uid leaking; promotion of nasal reconstruction;
and post-operative cosmesis [24] are all prerequisites for surgical removal of the
dermoid and cyst.
E. K. Yardımcı et al.
4.3 Craniofacial Anomalies
4.3.1 Pierre Robin Syndrome
In infants born with Pierre Robin Syndrome, the lower jaw is underdeveloped
(micrognathia), the tongue is positioned posteriorly (glossoptosis), and the roof of
the mouth is open (cleft palate) [25, 26]. Premature breathing and feeding difculties are possible outcomes of this combination [26]. The Pierre Robin sequence can
occur in isolation or as part of a syndrome with accompanying symptoms. The
condition arises by itself in roughly 20–40% of cases [26]. Pierre Robin syndrome
has mysterious origins [25]. Most solitary occurrences of the Pierre Robin sequence
may be traced back to changes (mutations) in the DNA close to the SOX9 gene [26].
Surgery to aid breathing and dietary changes to prevent choking are examples of
individualized approaches that may be part of the treatment plan [25].
4.3.2 Treacher-Collins Syndrome
The facial bones and other tissues cannot develop normally due to Treacher-Collins
syndrome (TCS). Symptoms range from hardly perceptible to quite severe. Most
patients with this disorder have small jaws and chins (a condition known as micrognathia) and undeveloped cheekbones. Other characteristics include but are not limited to ocular problems, hearing loss, and cleft palate [2, 27]. Mutations in TCOF1,
POLR1C, or POLR1D have been linked to TCS [28]. The TCOF1 and POLR1D
genes cause autosomal dominant inheritance [13, 27]. About 60% of autosomal
dominant cases, however, are not inherited from a parent and are caused by a novel
mutation in the gene [27]. Autosomal recessive inheritance is the norm when the
POLR1C gene is at fault [28]. Sometimes, doctors cannot pinpoint where the problem originated in the family tree.
4 Congenital Anomalies oftheUpper Respiratory Tract
55
4.3.3 Crouzon Syndrome
In patients with Crouzon syndrome, the skull bones fuse too soon (a condition
known as craniosynostosis). The head and face may not develop normally as a result
of this obstruction to skull growth. Crouzon syndrome is characterized by features
such as a tiny, “beak-shaped” nose, an undeveloped upper jaw, and wide-set, protruding eyes [29, 30]. Cleft lip and palate, hearing loss, and rotten teeth are frequent
characteristics. Even within a single family, affected members can differ in how
severely they experience symptoms. The majority of people with intellectual disability have average intelligence [29, 31]. Crouzon syndrome is an autosomal dominant disorder caused by mutations in the FGFR2 gene. Surgery is an option for
patients seeking to avoid difculties, enhance function, and promote positive psychological and social growth [29].
4.3.4 Down Syndrome
Children with Down syndrome (DS) often experience difculties in the areas of the
ear, nose, and throat (ENT). This includes chronic rhinitis, sinusitis, chronic ear
infections, and middle ear effusions that lead to hearing loss, airway obstruction,
and sleep apnea. Many of these ENT issues also call for surgical treatments, and
unique anesthetic concerns must be considered when treating children with Down
syndrome [2, 13]. Subglottic stenosis, post-operative airway blockage, and cervical
spine issues all fall under this category. The treatment outcomes for these ENT
symptoms of DS have improved as the care of children with DS has become more
consistent and proactive. The prevalence of hearing loss, chronic rhinitis, and sleep
apnea/sleep-disordered breathing in people with DS has decreased, thanks to
aggressive medicinal and surgical interventions [32].
4.3.5 Apert Syndrome
One reason for craniofacial condition or deformity is Apert syndrome, sometimes
called acrocephalosyndactyly. This infrequent congenital disorder is characterized
by premature fusion of the cranial sutures (craniosynostosis) and deformity of the
skull, hands, face, and feet [2]. It is an autosomal dominantly inherited congenital
disability with a prevalence of 1in 50,000 to 1in 80,000 live births. These missense
substitutions in broblast growth factor receptor 2 (FGFR2), which cause Apert
syndrome, are located between the protein’s second and third extracellular immunoglobulin domains and map to the chromosomal band 10q26. The father’s aging has
been linked to the appearance of Apert syndrome in offspring. Early, denitive diagnosis is crucial to differentiate Apert syndrome from other craniosynostosis, such as
Carpenter syndrome, Crouzon disease, Pfeiffer syndrome, and Saether-Chotzen
syndrome. The most effective treatment for Apert syndrome requires a team of specialists, including but not limited to neonatologists, neurosurgeons, craniofacial
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E. K. Yardımcı et al.
surgeons, plastic surgeons, otolaryngologists, orthodontists, orthopedic surgeons,
ophthalmologists, radiologists, geneticists, clinical psychologists, and speech and
language pathologists. Apert syndrome has a favorable adult prognosis if diagnosed
and treated early [33, 34].
4.4 Congenital Anomalies oftheOropharynx andLarynx
4.4.1 Thyroglossal Duct Cyst
With a prevalence of 7%, thyroglossal duct cysts are the most common congenital cervical anomaly. They can appear anywhere the thyroid travels, from the
bottom of the tongue to the lower neck. The hyoid bone is typically involved,
and the cysts manifest as nodules in the center of the neck [35]. A thyroglossal
duct cyst develops when the thyroglossal duct, which runs from the foramen
cecum in the tongue to the thyroid in the neck, does not entirely close during
embryonic development. In the third week of gestation, the thyroid forms as a
median extension of the primitive pharynx. The foramen cecum, where the
tongue’s front two-thirds meet its back one-third, is where the thyroid primordium forms. From there, the thyroid travels down toward the front of the neck,
where it comes into proximity to the hyoid bone as it forms. By the seventh
week of pregnancy [2], it has settled into its permanent location in the inferior
pre-tracheal neck.
The thyroglossal duct connects the thyroid gland to the foramen cecum and is
the remaining narrow tubular structure at the base of the thyroid. In roughly half
of humans, the distal section of the duct develops into the pyramidal lobe of the
thyroid gland. The thyroglossal duct is typically involuted when pregnancy
reaches the ninth week. Secretion from the epithelial lining of the duct can cause
inammation and thyroglossal duct cyst development if even a tiny part of the
duct remains after removal [36]. About 7% of people have thyroglossal duct cysts.
The hyoid bone is frequently involved with these cysts. They are between 15%
and 20% above the hyoid, 25–65% below the hyoid, and 20–25% above the infrahyoid [36, 37].
When starting with imaging, ultrasound is the gold standard. Ultrasound is
accessible, affordable, and painless. It is benecial for treating youngsters because
it does not involve ionizing radiation or anesthesia. Although computed tomography
(CT) and magnetic resonance imaging (MRI) can be used to assess thyroglossal
duct cysts and normal thyroid tissue, ultrasound is typically adequate for this purpose [38] (Fig.4.2).
Due to the low risk of malignancy associated with thyroglossal duct cysts, surgical excision is recommended to prevent reinfection. High recurrence rates (45–55%)
are seen after simple excision of thyroglossal duct cysts. Recurrence rates are signicantly lower after the Sistrunk surgery, making it the gold standard in surgical
care. More tissue from the base of the tongue and the middle third of the hyoid bone
must be removed during surgery for this procedure [39].
4 Congenital Anomalies oftheUpper Respiratory Tract
Fig. 4.2 Pre-operative
MRI showing
thyroglossal cyst
57
4.4.2 Laryngomalacia
Most cases of neonatal stridor can be traced back to laryngomalacia, and symptoms
typically present themselves in the rst few days of life [13]. Feeding, weeping, and
lying supine all worsen the already modest stridor. Symptoms worsen in half of all
instances within the rst 6 months of life, but almost all cases of laryngomalacia
improve by the time a child turns one [13, 40]. One in ve newborns diagnosed with
laryngomalacia will develop a life-threatening condition requiring emergency surgery due to severe airway blockage and feeding difculties. Apnea, cyanosis, severe
retractions, and failure to thrive are all signs that a youngster needs surgery. Cor
pulmonale is diagnosed in the most severe of cases [13, 40, 41].
Flexible transnasal beroptic laryngoscopy is used to conrm the diagnosis [2,
40]. Short aryepiglottic folds and prolapse of the cuneiform cartilages are dening
features. The epiglottis may be rmly coiled (-shaped) in some people. The supraglottic structures typically collapse on inspiration due to the Bernoulli effect [2, 40].
Even in healthy newborns, an omega-shaped epiglottis can cause breathing difculties, most commonly seen in those with laryngomalacia [2]. Infants with laryngomalacia may also experience airway complications due to a second synchronous
lesion. Children with more severe laryngomalacia are more likely to develop secondary lesions, with reported rates ranging from 8% to 58% [2].
In the 10% of children who need surgical intervention, this can often be scheduled within a few weeks of presentation as an elective procedure. It is wise to treat
gastroesophageal reux disease (GER) before surgery [40]. Supraglottoplasty (aryepiglottoplasty) has replaced previous methods of treatment [2, 40]. It is an endoscopic treatment that is quick and successful in treating the laryngeal pathology of
infants [40]. The short aryepiglottic fold is divided to do a supra-glottoplasty [2,
42]. Alternately, the tissue underlying the arytenoids, the aryepiglottic folds, or the
posterior section of the epiglottis [43] may be excised if the supraglottis is prolapsing. Preventing post-operative stenosis requires protecting the inter arytenoid
58
E. K. Yardımcı et al.
mucosa [2, 43]. Laryngeal edema may compromise the airway after supraglottoplasty, making overnight supervision in the ICU necessary. Extubation is typically done within the rst 24h after surgery. Some youngsters still have problems
breathing after surgery. Fiberoptic laryngoscopy at the bedside can distinguish
between laryngeal edema and chronic laryngomalacia. The swelling of the larynx
can be reduced by treating reux. Sometimes the larynx looks ne after surgery, but
the baby still has trouble breathing. Tracheotomy is sometimes necessary in cases of
laryngomalacia with an underlying neurologic component [2, 40]. Supraglottic stenosis, the most worrisome complication, may develop in up to 4% of cases [2, 44],
but it is still uncommon.
4.4.3 Vocal Fold Paralysis
One of the most common causes of infant stridor is vocal fold paralysis. The stridor has a musical sound, either inspiratory or biphasic. Bilateral vocal fold paralysis (VFP) is more often congenital than unilateral VFP.Causes of VFP in infants
range from birth trauma to thoracic disease or surgery to the hydrocephalus and
Chiari malformation of the brainstem to idiopathic causes [2, 45]. A tracheotomy
should be performed on a baby with stridor and retractions because of bilateral
paralysis.
Diagnosis is made for laryngomalacia, with an awake exible transnasal beroptic laryngoscopy [40] (Fig. 4.3). Idiopathic bilateral VFP should include a brain
MRI to rule out an Arnold-Chiari malformation or other intracranial cause of brainstem compression [46]. A small, dynamic glottis and collapsing supraglottic tissues
in infants can make the diagnosis of VFP challenging [2].
The second most prevalent cause of congenital stridor is paralysis of the vocal
cords at birth [47]. Individuals with unilateral VFP may have trouble feeding, aspirating their food, or crying weakly. Paralysis can resolve on its own in up to half of
children by age 1. Therefore, decannulation surgeries are typically postponed until
after this time frame [40]. Decannulating airway surgery aims to keep the patient’s
voice and prevent further aspiration. A variety of surgical procedures, including
laser cordotomy, endoscopic or open partial or whole adenoidectomy, endoscopically guided or open vocal process lateralization, and posterior cricoid cartilage
grafting, are available for patients with vocal cord paralysis [13, 48]. There is no one
best solution available. Maintaining a tracheotomy in a child is often recommended
prior to decannulation to guarantee a secure airway. Unlike idiopathic cord paralysis, acquired bilateral vocal cord paralysis can be difcult to cure, and decannulation may require more than one therapy. Patients undergoing these procedures may
benet from continuous positive airway pressure (CPAP) or a high-ow nasal cannula to treat stridor after extubation. Before a kid may return to a regular diet after
surgery, the risk of aspiration should be evaluated using a video swallow study.
Certain textures, and fragile uids, may increase the risk of aspiration in the rst
few weeks after surgery [40].
4 Congenital Anomalies oftheUpper Respiratory Tract
Fig. 4.3 Endoscopic view
of the bilateral vocal fold
paralysis
59
4.4.4 Webs oftheLarynx
A laryngeal web indicates that the glottic airway was not successfully recanalized
during the rst few weeks of development. The majority of glottic webs (95%) are
located in the front of the glottis; nonetheless, glottic webs are highly uncommon,
accounting for only 5% of congenital laryngeal anomalies [40] (Fig. 4.4). They
result from delayed or halted recanalization of the primitive larynx, generally occurring between the eighth and tenth weeks of embryonic development. Congenital
subglottic stenosis, trachea-esophageal stulas, and specic syndromes [49] are
other congenital deformities that can occur in tandem. The relatively high connection frequency with 22q11 microdeletion makes genetic inquiry and counseling
essential [49], even though a gene has not been identied as the cause of this deformity. All patients with congenital anterior glottic webs should be referred for genetic
investigation due to the high prevalence of chromosome 22q11.2 deletion syndrome
among those affected by this condition (over 50%). Numerous phenotypes, such as
DiGeorge’s syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and sporadic or familial cardiac problems, are caused by the same microscopic and submicroscopic deletions. Genetic testing and a complete cardiovascular
examination should be performed on all patients diagnosed with the laryngeal web
[22]. Abnormal cries or respiratory discomfort are the most common symptoms
reported by parents of newborns. In the rst few hours or days of life, if a baby with
an anterior glottic web presents with signicant airway compromise, the web is
severed, and airway management is necessary immediately. Although newborns are
extraordinarily tolerant of airway impairment, the clinician should know that even
infants with a moderate to severe glottic web may initially present with only minor
60
Fig. 4.4 Endoscopic view
of the anterior
laryngeal web
E. K. Yardımcı et al.
airway symptoms. During a newborn’s rst several months, these symptoms often
worsen. Biphasic stridor and retractions are very noticeable in newborns with moderate to severe webs, especially when these infants are disturbed or feeding [40, 50].
In most cases, an open approach is necessary to successfully treat an anterior laryngeal web so that the subglottic constriction can be addressed. It is not generally recommended to do denitive surgery on a child younger than 6–12months of age due to the
perioperative dangers and technical difculties of operating on a small airway [51].
When an infant is born with a thick glottic web, the rst step is to decide if the repair
should be done in the neonatal or pediatric periods. Due to the technical advantages of
operating on a more prominent larynx, late repair is preferred in children with a mild or
moderate web and no clinical airway compromise. By the time a child reaches age 4, it
may be possible to restore the damage and improve the sound of their voice in time for
school. Early correction may be performed in children with more severe glottic impairment. An alternative is to perform a tracheotomy and schedule surgery later. About
40% of patients with thick webs need this method [40]. Endoscopic therapy with laser
division may be effective in unusual circumstances where the web is small [22].
4.4.5 Subglottic Stenosis
When the laryngeal lumen is less than 4.0mm in a full-term baby or 3.5mm in a
premature neonate with no history of intubation or surgical trauma, the diagnosis of
congenital subglottic stenosis (CSS) is made [52, 53] (Fig.4.5). Congenital stenosis
4 Congenital Anomalies oftheUpper Respiratory Tract
Fig. 4.5 Endoscopic view
of the subglottic stenosis
61
or atresia of the larynx is the result of inadequate fetal airway recanalization during
embryogenesis (about the tenth week of gestation). CSS is not seen as a singular
condition but as part of a more extensive congenital syndrome. The syndromes
22q11.2 deletion (DiGeorge syndrome), Fraser syndrome, VACTERL/VATER
association, and CHARGE syndrome all involve CSS [53, 54]. Cotton proposed the
current system for grading laryngeal stenosis in 1984, and Myer modied it in 1989.
Endoscopy determines the degree of blockage and its anatomical location [54].
Airway stenosis is categorized as grade I if it is between 50% and 70% narrow,
grade II if it is between 71% and 99% (with visible lumen), and grade IV if it is
completely blocked [53].
The size and length of stenosis in a nonintubated airway may be discerned
through radiologic examination. Imaging techniques such as chest X-ray, uoroscopy, and lms of the soft tissues of the neck taken during inspiration and expiration
can all be helpful. High-kilovolt airway lm, however, is the most crucial study to
date. The characteristic steepling seen in patients with CSS and the possibility of
tracheal stenosis may be seen on these lms. The latter is more common in patients
with complete tracheal rings and can make rigid endoscopy dangerous for the
patient. Endoscopic examination is necessary for a proper evaluation of
CSS.Dynamic vocal fold function can be studied with the help of exible beroptic
endoscopy. Hopkins rigid endoscopes provide the most thorough analysis. It is