to Grand Rounds Index|
Dept. of Otolaryngology, UTMB, Grand Rounds
DATE: May 8, 1996
PHYSICIAN: Greg Young, M.D.
Ronald W. Deskin, M.D.
EDITOR: Francis B. Quinn, Jr., M.D.
"This material was prepared by resident
physicians in partial fulfillment of educational requirements established for
the Postgraduate Training Program of the UTMB Department of Otolaryngology/Head
and Neck Surgery and was not intended for clinical use in its present form. It
was prepared for the purpose of stimulating group discussion in a conference setting.
No warranties, either express or implied, are made with respect to its accuracy,
completeness, or timeliness. The material does not necessarily reflect the current
or past opinions of members of the UTMB faculty and should not be used for purposes
of diagnosis or treatment without consulting appropriate literature sources and
informed professional opinion."
The syndromic child is at risk
for several problems within the Otolaryngologist's range of expertise. Anatomic
anomalies and functional deficiencies often compromise the upper airway, hearing,
and speech of these patients. Occult findings, usually in the neck, may lead
to severe consequences if unrecognized.
A malformation is a “morphologic defect
of an organ, part of an organ, or a larger area of the body resulting from an
intrinsically abnormal developmental process. The most common types of malformations
are due to incomplete morphogenesis, such as hypoplasia (e.g. microcephaly), incomplete
closure (e.g. cleft palate), or incomplete separation (e.g. syndactyly). Malformations
initiated late in fetal development are simple, while those initiated early in
organogenesis are more complex and severe.1
A deformation is an abnormal form or
position of a portion of the body (e.g club foot, congenital hip dislocation).
They occur late in fetal development, and are caused by intrauterine mechanical
forces that restrict the movement of the developing fetus. Conditons that may
restrict fetal movement include a small maternal size, amniotic tear, bicornuate
uterus, and twin fetuses. In addition, fetal malformations of the central nervous
system or urinary tract may also lead to deformations, due to partial paralysis
of the legs or insufficient amniotic fluid, respectively. Deformations may spontaneously
improve postnatally, when the restriction on movement is no longer present.1
A disruption is a defect due to an
interference with an otherwise normally developing organ or region of the body.
The in-utero amputation of a finger or limb due to an amniotic band is a disruption.
Unlike malformations and deformations, disruptions usually occur sporadically,
with no increased recurrence risk. 1
Comparison of Malformations, Deformations, and Disruptions:
Malformation Deformation Disruption
Timing of Insult embryo fetus fetus
Level of Insult organ region region
Mortality + - -
Spontaneous Correction - + -
Recurrence Risk Higher Lower Rare
Frequency in Neonates 3% 2% Rare
- modified from table 3-15 of Pediatric Otolaryngology, Bluestone, Stool,
Kenna, third edition, 1995.
A sequence occurs when a single developmental
defect results in a chain of secondary defects, which may, in turn, lead to tertiary
defects. The result is a variably expressed group of defects, all of which can
be traced back to the original event. For example, the primary defect in Pierre
Robin syndrome is mandibular hypoplasia, which results in posterior displacement
of the tongue, which precludes closure of the palatal aches. Both single malformations
and sequences may occur in isolation, or as part of a group of malformations.1
Syndromes are groups of anomolies which
contain multiple malformations and/or sequences. The malformations and sequences
are variably expressed in a syndrome, such that a given anomaly may be incompletely
expressed or absent in certain individuals with the syndrome. Single malformations
that are unique to a syndrome, and that are always expressed in that syndrome,
are very rare. Therefore, making the diagnosis of a syndrome depends on recognizing
the overall pattern of the anomalies. In the more common syndromes, the frequency
and range of expression of various malformations and sequences are known.1
Syndrome vs. Sequence-
In syndromes, the pathogenetic relationship
of the group of anomalies is frequently not understood. By contrast, the entire
cascade of events is often known in a sequence. A sequence may have multiple known
causes (e.g. Pierre Robin), whereas a syndrome can often be traced to a single
genetic malformation (e.g. Down syndrome). In sequences, there is one primary
defect causing a cascade of secondary anomalies. In syndromes, there are often
multiple primary defects resulting in several cascades of embryonically noncontiguous
anomalies. One or more sequences may be associated with various syndromes (e.g.
Pierre Robin sequence is often seen in Stickler syndrome).1
An association is the occurrence in
multiple patients of a group of anomalies not known to be a sequence or syndrome(e.g.
CHARGE, VATER). It is not a specific disorder or diagnosis. Its main utility as
a designation is to alert clinicians to search for other possible components of
the constellation in a patient with one or more anomalies. 2
Minor Anomalies of the Face
Minor anomalies are those defects without
serious medical or surgical significance. Examples of minor anomalies of the face
include epicanthic folds, coloboma, small or protuberant ears, small nares, and
bifid uvula. Almost half of all known minor anomalies occur on the face. These
anomalies may be of cosmetic concern since they are often conspicuous.
Certain minor anomalies are quite
common in many syndromes, and therefore often aid in their diagnosis. For example,
the upslanting palpebral fissures, epicanthic folds, low nasal bridge, small
nose, and protruding tongue of Down syndrome provides a typical appearance that
readily suggests the diagnosis.1
While isolated minor anomalies
are quite common and occur in 15% of the general population, 90% of patients
with 3 or more minor anomalies also have a major anomaly . Therefore, infants
with 3 or more minor anomalies should be carefully evaluated for occult renal,
cardiac, or vertebral anomalies.1
Idiopathic mental retardation is
also associated with multiple minor anomalies. A study of patients with idiopathic
mental retardation showed that more than 40% of these patients had 3 or more
anomalies, 80% of which were minor. Therefore, patients with 3 or more anomalies
should be monitored closely for appropriate mental development. 1
The diagnosis of a syndrome begins
with a careful history and physical examination. Photographs help with documentation
and chromosome studies may be used to confirm certain syndromes.
The history should include the
mother's age, exposure to toxins, and previous abortions. Paternal age, parent
consanguinity, and family history are also important. Maternal Factors:
Advanced age- increased risk of
trisomies (21, 13, 18)
Exposure to toxins- fetal alcohol
syndrome, fetal hydantoin syndrome, warfarin syndrome
Previous abortions- X-linked dominant
disorders, balanced translocation carriers
Advanced Paternal Age- increased
risk of new mutations and dominant conditions (e.g. Marfan, Crouzon, Treacher
Consanguinity- associated with
autosomal recessive defects
Positive Family History- associated
with chromosomal or monogenic disorders
Management of Children with Craniofacial
The aesthetic, functional, and psychological
ramifications of craniofacial anomalies in children are immense, and span the
range of expertise of several medical and surgical specialties. As such, a team
approach is essential to the management of these patients. The otolaryngologist
typically is responsible for evaluation and management of the upper airway, hearing,
and speech in these patients.
Children with craniofacial anomalies
present a variety of airway challenges. The airway problems which may occur in
these children change as the child grows, but each may cause significant morbidity,
and in some cases, mortality.
Neonatal Nasal Airway Obstruction-
Neonatal nasal airway obstruction may
occur in infants less that 3 months old who have bilateral choanal atresia, midfacial
hypoplasia (Crouzon, Apert), or frontal nasal dysplasia (nasal encephalocele).
Because infants are obligate nasal breathers, respiratory distress and asphyxia
may occur. Affected infants have paradoxical cyanosis, whereby cyanosis occurs
at rest, and only resolves when the infant is crying (and therefore mouth breathing).
Treatment consists of securing an oral airway in place until 2-3 months of age,
when the child learns to mouth breathe.1
Neonatal Oral Airway Obstruction-
Neonatal oral airway obstruction may
occur in children with mandibular hypoplasia or retrognathia, as the associated
glossoptosis (posteroinferior displacement of the tongue) results in oropharyngeal
obstruction. Mandibular anomalies and glossoptosis are more likely to cause symptomatic
obstruction in patients with a cleft palate(e.g. Pierre Robin sequence). Treatment
is usually insertion of a nasopharyngeal airway, or tracheotomy (performed over
a rigid bronchoscope). Infants may sometimes be kept in the prone position to
provide an adequate airway, allowing the tongue to fall anteriorly. Suturing the
tongue to the lower lip has been advocated in the past. Mandibular growth reduces
glossoptosis with time, and by 6 months of age, this type of airway obstruction
has usually resolved. Decannulation is usually performed at this time. However,
if a cleft palate is present, decannulation may be delayed until after its repair.1
Obstructive Sleep Apnea-
Obstructive sleep apnea may occur in
children with narrowed nasopharygeal airways. In addition to children with enlarged
adenoids, those with posterior displacement of the midface (Crouzon, Apert) may
occlude their nasopharygeal airway when in the supine position. The resulting
obstructive sleep apnea in both groups of patients may be successfully treated
Older children with retrognathia
(Treacher Collins) and snoring with obstructive symptoms may also benefit from
tonsillectomy. If unsuccessful, sliding mandibular osteotomies are sometimes
performed in mid-adolescence.
is contraindicated in patients with glossoptosis and a history suggestive of
obstructive symptoms. In general, surgery for velopharyngeal incompetence (VPI)
should not be performed on patients at risk for obstructive sleep apnea. Severe
obstructive sleep apnea and cor pulmonale have been documented after UPPP in
Tracheostomy may be necessary in
some children with OSA, either as an initial treatment in severe cases to prevent
asphyxiation, or as a last resort after adenotonsillectomy, partial base of
tongue or supraglottic fold excision, and/or sliding mandibular osteotomies
have failed to relieve the obstruction.1
Chronic Nasal Obstruction->
Patients with a unilateral cleft of
the primary palate have a combination of nasal anomalies that results in bilateral
1) The dome of the ipsilateral
lower lateral cartilage is lower smaller, and retroposed, with a widened angle
between the medial and lateral crura.
2) The ipsilateral upper lateral
cartilage is flatter
3) The ipsilateral lateral crus
4) The alar base is displaced downward
against an underdeveloped maxilla
5) The nasal floor is wider
6) The columella and cartilagenous
septum are deviated to the contralateral side
7) The posterior septum is deviated
to the ipsilateral side
8) The nasal tip is deviated to
the contralateral side
If the soft tissue collapse is
not significant, septoplasty alone may improve the nasal airway in these patients.
Conservative removal of a caudal strip of cartilagenous septum, and more aggressive
removal of the vomer and nasal spine is advocated.
Another cause of nasal obstruction
in patients with craniofacial anomalies is nasal mucosal edema. This may result
from an oronasal fistula, heterotopic tooth eruption in the floor of the nose,
or sinusitis. Medical or surgical treatment of these conditions may improve
the nasal airway.1
Surgical Airway Maintenance in
Children with Craniofacial Anomalies-
The surgical airway in children with
craniofacial anomalies may be maintained with naso- or oro-tracheal intubation,
or with tracheostomy. Tracheostomy is somewhat less common today due to improvements
in intubating equipment and techniques (e.g. flexible endoscopes, optical stylets),
and the use of miniplates instead of IMF for mandibular osteotomies. However,
tracheostomy should still be performed whenever difficulties with either primary
endotracheal intubation or urgent postoperative re-intubation are anticipated.3
The ideal method of airway maintenance
varies depending on the patient's anatomic restrictions, and the surgery to
be performed. Nasotracheal intubation may not be possible in patients who have
undergone cleft palate repair, unless the lateral ports of the palatopharyngoplasty
flap are of sufficient size. In patients with severe retrognathia and TMJ ankylosis,
nasal intubation or bronchoscopy followed by tracheostomy in usually indicated.
If retrognathia occurs with cervical spondylosis, local tracheostomy without
prior airway control may be necessary. In general, however, tracheostomies in
children with craniofacial anomalies should be performed with prior airway control
using bronchoscopy or endotracheal intubation.
The anatomic anomaly most often
associated with difficult airway management is mandibular hypoplasia.3 Children
born with mandibular hypoplasia (e.g. Pierre Robin sequence, Treacher Collins
syndrome, Goldenhar's syndrome) often require laryngoscopy or intubation. This
may be due to primary respiratory symptoms, or because general anesthesia is
required to correct a congenital anomaly. Visualization of the vocal cords can
be difficult or impossible with standard intubating techniques due to anatomic
features associated with mandibular hypoplasia. These include a prominent maxilla
or maxillary teeth, glossoptosis, a small oral cavity which results in a relative
macroglossia, and trismus due to TMJ problems. As a result of the posterior
displacement of the tongue, the larynx appears to be located more anteriorly
during laryngoscopy, precluding its visibility.
Method of Intubation-
A method of intubation has been developed
by Handler and Keon that minimizes the anatomic difficulties associated with the
hypoplastic mandible.3 The following instruments are required, in addition to
the usual pediatric airway set:
1) appropriate size endotracheal
tube with proximal connector removed, which has been coated with a water soluble
2) lubricated 2.7 mm diameter telescope
3) 9-cm pediatric Jackson anterior
4) laryngeal alligator forceps
After placing the child in the
sniffing position, a 9-cm pediatric Jackson anterior commissure laryngoscope
is inserted along the right side of the tongue. This particular laryngoscope
is recommended because
1) the straight enclosed barrel
prevents protrusion of the tongue into the line of sight
2) the narrow profile promotes
easier access to the laryngeal inlet, and
3) suctioning is easily accomplished.
When the posterior third of the
tongue is reached, the proximal end of the laryngoscope is moved far right,
and the distal tip is directed to the midline and advanced. Using this method
instead of the usual "midline tongue" approach, the fulcrum action of the tongue
on the laryngoscope is avoided, and the needed anterior angulation of laryngoscope
is attained. The laryngoscope is then used to lift the epiglottis, and further
advancement is accomplished after the larynx is externally manipulated both
posteriorly and to the left. Once the vocal cords are in view, the prepared
endotracheal tube is inserted into the laryngoscope and passed through the cords.
The telescope may be used as an optical stylet if insertion is difficult. The
telescope is removed, and the proximal end of the endotracheal tube is grasped
with the alligator forceps.
The laryngoscope is then carefully
removed, and the forceps is used to hold the endotracheal tube in place. The
proximal connector is then reattached to the endotracheal tube, and placement
is confirmed in the usual fashion. 3
Normal hearing is required for proper
development of language skills. Even mild degrees of hearing loss may impair learning.
Children with craniofacial anomalies are at high risk for congenital and acquired
hearing loss. Often, however, the detection of hearing loss in these children
is delayed because their slower learning is attributed to their syndrome. Unusual
appearance is often erroneously equated with mental retardation. Both congenital
and acquired hearing loss in these patients is usually conductive. Any sensorineural
component in most types of craniofacial anomalies is thought to be coincidental.
An exception is the congenital sensorineural hearing loss associated with Waardenburg
Congenital Hearing Loss-
Congenital hearing loss is commonly
seen with microtia, because of the often associated external canal atresia. Microtia
is common with Treacher-Collins syndrome and hemifacial microsomia. Patients with
canal atresia often have obliteration of the middle-ear cleft, thereby precluding
surgery. Hearing in these patients, however, often is much improved with a bone
conduction hearing aid. Surgery is usually not performed on patients with a normal
hearing ear, but CROS hearing aids may improve auditory rehabilitation in these
Congenital hearing loss without
microtia may be due to ossicular deformity or fixation. Ossicular anomalies
are often associated with an abnormal appearing tympanic membrane (small, oblique,
poor landmarks). Ossicular surgery is often helpful in these patients, but increased
caution should be exercised due to the greater incidence of facial nerve dehiscence
and abnormal location.1
Acquired Hearing Loss-
Acquired hearing loss in patients with
craniofacial anomalies is usually associated with eustachian tube dysfunction
(ETD). Middle ear effusion, retraction, atelectasis, and cholesteatoma are all
seen in these patients as a consequence of ETD. Patients with secondary cleft
palates and midface craniosynostosis are most commonly affected. Those with Apert
syndrome (acrocephalosyndactyly) may have abnormal eustachian tube cilia, which
may exacerbate the ETD.
Children with secondary cleft palates
and midface craniosynostosis rarely respond to antibiotics, and usually require
tympanostomy tube placement for ETD. Often, tubes will be needed until early
to mid adolescence. Unilateral jugular dehiscences may be more common in patients
with craniosynostosis, so careful preoperative examination should be performed
in these patients. In addition, poor eustachian tube function in these patients
precludes successful tympanoplasty until mid to late adolescence.1
Cleft palate repair often leads to
velopharyngeal incompetence (VPI) and an associated hypernasal speech. Hypernasality
also characterizes "deaf speech", observed with craniofacial anomalies and a hearing
loss of more than 30dB. Hypernasality can often be substantially reduced with
speech therapy. If the child is at least 5 years old and speech therapy has failed,
palatopharyngoplasty (UPPP) is often performed with good results. Again, UPPP
should not be performed on patients with glossoptosis and obstructive symptoms.1
Hyponasality is due to nasal airway
obstruction, and is commonly seen in patients with craniofacial anomalies that
involve a posterior displacement of the midface. Similar hyponasality occurs with
bilateral choanal atresia and iatrogenic velopharyngeal atresia (e.g. due to UPPP).
These patients often respond to adenoidectomy, and repair of choanal atresia if
Hoarseness in common in patients with
VPI due to vocal nodules that develop in response to compensatory increased laryngeal
activity. The treatment of choice is correction of the VPI. Hoarseness may also
occur after nasotracheal intubation.
Common Syndromes and Sequences
Pierre Robin Sequence:
Pierre Robin sequence is the combination
of micrognathia, cleft palate, and glossoptosis, which occurs in about 1 in 8,500
births. It is seen with a variety of disorders, including those due to monogenic
or chromosomal abnormalities, teratogens, and disruptions. One fourth of children
with Pierre Robin sequence have a specific syndrome, another one third have multiple
anomalies but no specific syndrome, and the remaining 40% occur in isolation.
The syndrome most commonly seen in patients with Pierre Robin sequence is Stickler
syndrome (about 12%). Because of the ocular problems associated with Stickler
syndrome (myopia, retinal detachment due to connective tissue disorder), patients
with Pierre Robin sequence should have a careful eye examination. Ear, heart,
and limb anomalies are also seen with increased frequency in Robin sequence children.
The basic defect in Robin sequence
is thought to be mandibular hypoplasia which may occur by at least four different
mechanisms. Oligohydromnios decreases fetal movement, and may restrict mandibular
growth by compressing the chin against the chest. Hypotonia may inhibit mouth
opening and thereby restrict mandibular exercise. Systemic growth deficiencies
may cause intrinsic mandibular hypoplasia. Connective tissue disorders may cause
intrinsic mandibular hypoplasia and inhibit palatal closure.
The resulting mandibular hypoplasia
causes a posterior displacement of the tongue. A wide U shaped cleft palate
is caused by the tongue partially interposing between the palatal folds. Micrognathia
results in decrease support for the tongue, which leads to glossoptosis (postero-inferior
position of tongue).2
Airway and hearing problems are
common in patients with Robin sequence.
Glossoptosis causes a ball valve effect
in the posterior pharynx, allowing air to excape, but not enter the lungs. This,
in turn, leads to episodic cyanosis and sternal retractions, worse in the supine
position. Respiratory difficulty frequently occurs within the 1st week of life.
Asphyxia has occurred from the tongue becoming lodged in the cleft palate, thereby
occluding the nasopharyx. Failure to thrive is common in these patients, and can
often be reversed by placement of a nasopharyngeal airway. Cor pulmonale may develop
in severe cases, and is treated with nasopharyngeal airway placement or tracheostomy.
Otitis media is common in these patients,
and is due to eustachian tube dysfunction, complicated by the cleft palate.
Poor feeding is common, and probably
results from lack of tongue control.
Trisomy 21 syndrome(Down Syndrome)
Down syndrome is the most common of
all malformation syndromes. In 1866, Langdon Down described a condition that he
called "mongolian idiocy". Down syndrome occurs in about 1/650 live births. The
majority of trisomy 21 conceptions end in spontaneous abortions.2
The syndrome is due to a nondisjunction
(95%) of chromosome 21 or translocation (5%) of the q22 segment to another chromosome.
The recurrence rate for nondisjunction type Down syndrome is about 1%, and for
translocation type is 2-10% (except is 100% for G/G(21/21) translocation).4
Average IQ is 30-40, and Down syndrome
occurs in about 15% of patients institutionalized for mental retardation. Average
life span is 35 years, with death due to congenital heart disease, leukemia,
and pneumonia in childhood, and Alzheimer's and poor immunity in adulthood.
Prevalence increases with maternal age.5
Hall studied the clinical features
of these patients extensively, and developed the Ten Cardinal Features of Down
Syndrome.2 Hall noted that 6 of these features were present in 90% of Down newborns,
and all affected newborns had at least 4 of these features:
1) hypotonia 4) excess posterior neck skin 7) anomalous auricles
2) poor moro reflex 5) flat facial profile 8) pelvic dysplasia
3) hyperextensibility 6) slanted palpebral fissures 9) single palmer crease
10) 5th finger anomaly
Other common head and neck findings
include epicanthic folds, Brushfield spots, small and open mouth, protruding
tongue, narrow palate, short and broad neck.
Airway and hearing problems are
common in Down patients.
Sleep apnea occurs in up to 50% of
Down patients.4 Anatomic, functional, and central mechanisms may all contribute
to airway obstruction in these patients. Micrognathia, narrow palate, and midface
hypoplasia may impinge both the naso- and oro-pharyngeal airway. Hypopharyngeal
collapse during inspiration has been observed in Down patients. An abnormal hypoxic
stimulus for respiration may be a contributing factor in some cases.
Central vs. obstructive apnea can
be differentiated by the lack of respiratory effort in central apnea. Patients
with obstructive sleep apnea may benefit from UPPP. Adenotonsillectomy is indicated
in these patients if adenotonsillar hypertrophy exists. Control of upper airway
infections is an essential part of sleep apnea treatment.
The incidence of hearing loss in Down
syndrome patients is 42-78%.4 Conductive hearing loss due to middle ear effusion
is most common. Sensorineural hearing loss is rare in affected children but common
in older patients(due to age, repeated infections, and perhaps the observed bony
deposition along the basal spiral tract.4
Anatomic anomalies in Down patients
that contribute to chronic middle ear effusion and conductive hearing loss include
external auditory canal stenosis(precludes TM inspection) and eustachian tube
cartilage anomalies(promotes stasis and ascending infection). Functional factors
include hypotonicity of the tensor veli palatini (poor eustachian tube opening).
Altered T-cell function in these patients may promote otitis media.4
Myringotomy and tube placement,
along with antibiotic therapy, is the treatment of choice for Down patients
with middle ear effusion. Those with persistent hearing loss often improve with
conductive hearing aids. Ideally, all patients with Down syndrome should undergo
otologic and audiologic examination prior to 18 months of age. Several studies
have shown that hearing improvement in Down patients improves language development
and social function.
Cervical manipulation should be minimized
in Down patients, since 16% have odontoid abnormalities, and 15% have atlantoaxial
The anomalies that comprise CHARGE
association are: Coloboma (uni- or bilateral coloboma of iris, retina, and/or
disc in 50%) Heart defects(PDA, VSD, ASD, cushion defect, aortic coarctation,
tetrology in 50%) Atretic choanae(65%) Retarded postnatal growth(50%) and CNS
defects(mild mental retardation in 50%) Genital hypoplasia in males(50%) Ear anomalies(
low set/lop/cup-shape/etc. in 50%) and deafness
CHARGE is thought to arise from
a defect in the development or maturation of cephalic neural crest cells. Polyhydramnios
occurs with CHARGE in about 50% of cases. One-third of affected infants die
in the 1st 3 months. The mortality rate is even higher in those with both cardiac
defects and choanal atresia.2
Characteristic facies include square
face with malar flattening, pinched nostrils, long philtrum, prominent columella,
high nasal bridge, small mouth and cleft palate. Each of these facial anomalies,
as well as swallowing difficulty and unilateral facial palsy occur in about
50% of affected patients.
Patients with CHARGE associations
may have both airway and hearing problems.
Complete nasal obstruction is common
in affected patients, since choanal atresia is bilateral in 65% of cases. If unilateral,
it occurs more often on the left. Infants with bilateral choanal atresia may exhibit
paradoxic cyanosis. Treatment consists of securing an oral airway until the infant
learns to mouth breathe at 2-3 months of age.2
The hearing loss typical of CHARGE
patients is a mixed progressively worsening hearing loss, with a wedged shaped
audiogram. Histologically, a Mondini defect is often found in the pars inferioris,
with complete absence of the pars superioris.2
Treacher Collins Syndrome (Mandibulofacial
Treacher Collins Syndrome involves
anomalous derivatives of the 1st and 2nd pharyngeal arch, groove, and pouch. It
is inherited as autosomal dominant with variable expressivity. New mutations are
responsible for about 60% of cases, and are more common with older fathers. Intelligence
is usually normal.2
Treacher Collins facies are characteristic.
The palpebral fissures are short, and slope laterally downward. The lower eyelid
often has no cilia medially, and a coloboma is present laterally. The supraorbital
rims and zygomas are hypoplastic, giving the false impression of a large nose.
The large mouth is down-turned, and the chin is receded. The auricles are malformed,
often with meatal atresia. Microtia occurs in 60% of patients.
Radiography shows severely underdeveloped
malar bones with nonfusion of the zygomatic arches. Mandible films show a small,
retrognathic mandible with antegonial notching and an open bite.
Treacher Collins syndrome patients
may have problems with airway maintenance and hearing.
The hypoplastic, retrognathic mandible
of these patients may lead to airway difficulty, especially if the need for intubation
or laryngoscopy arises. The intubation procedure described above for the hypoplastic
mandible is helpful in these patients. In older childhood, these patients may
develop obstructive sleep patterns, which may respond to tonsillectomy or mandibular
Treacher Collins patients often have
conductive hearing loss, which may be congenital or acquired. Congenital causes
of hearing loss include meatal or canal atresia, ossicle defects, or middle ear
obliteration with connective tissue. The inner ears are usually normal. Acquired
hearing loss is due to eustachian tube dysfunction, probably caused by palatopharyngeal
incompetence (70% of Treacher Collins have cleft palate or related problem). 2
Crouzon Syndrome (Craniofacial
Crouzon syndrome was first described
by Crouzon in 1912. It is inherited as autosomal dominant, with about 50% of cases
representing new mutations. It occurs with a frequency of about 1 in 25,000. Intelligence
is normal. Facies are characteristic, and must include ocular proptosis (due to
shallow orbits).2 Other common features are craniosynostosis (usually brachycephaly),
maxillary hypoplasia, crossbite with crowding of maxillary teeth and lateral palatal
These patients often have problems
with airway and hearing.
Airway problems in these patients are
primarily due to the hypoplastic midface, which results in a decreased nasopharyngeal
space. Infants with Crouzon syndrome may exhibit paradoxical cyanosis, whereby
cyanosis is only relieved with crying (and therefore oral breathing). Treatment
involves securing an oral airway until the patient is 2-3 months of age, when
oral breathing is learned. During later childhood, these patients may develop
obstructive sleep patterns, which may respond to adenotonsillectomy.
Although external canal atresia is
seen in about 13% of these patients, conductive hearing loss occurs in over 50%.
2 Hearing loss in these patients is usually acquired, from eustachian tube dysfunction.
In these patients, eustachian tube dysfunction is thought to occur because of
midface hypoplasia, and the resulting decreased nasopharyngeal space. These patients
often require multiple sets of middle ear ventilation tubes.
Cervical manipulation should be limited
during intubation in these patients, since about 30% have cervical spine anomalies
(mostly vertebral fusions/ C2-3 73%).2
1) Crysdale W.S., and Gaffney R.J.,:
Malformations and Syndromes. In: Pediatric Otolaryngology, Volume I, 3rd edition.
C.D. Bluestone, S.E. Stool, and Kenna(Eds.). W.B. Saunders, Philadelphia, pp.
2) Strome M.: Down's syndrome:
A modern Otorhinolaryngological perspective. Laryngoscope, 91: 1581-1594, 1981.
3) Handler S.D., and Keon T.P,:
Difficult laryngoscopy/intubation: The child with mandibular hypoplasia. Ann
Otol Rhinol Laryngol, 92: 401-404, 1983.
4) Strome S.E., and Strome M.:
Down syndrome: An otolaryngologic perspective. J Otolaryngol 21: 394-397, 1993.
5) Gorlin R.J., Cohen Jr., M.M.,
and Levin L.S.: Syndromes of the Head and Neck, 3rd Edition. Oxford University
Press, Oxford, pp. 33-40,524-526, 649-652,700-705,881-882. \