Treacher Collins Syndrome: Otologic and Auditory Management

J Am Acad Audiol 5 : 93-102 (1995)

Treacher Collins Syndrome : Otologic and
Auditory Management

Robert A. Jahrsdoerfer*
John T. Jacobsont

Abstract
Treacher Collins syndrome (TCS) is an autosomal dominant genetic disorder, the pheno-
typic expression of which is seen in the head and neck area . The syndrome has full penetrance
but variable expressivity even among family members, and recent investigation has reported
gene site on chromosome 5q . TCS has a reported prevalence of 1 in 50,000 live births with
about 40 percent of new occurrences resulting from a positive family history and a 60 per-
cent new mutation rate . The clinical features of TCS involve bilateral abnormalities of the
pinnae, external auditory canal, tympanic membrane, and middle ear space. Microtia has
been reported to be as high as 85 percent, with one third of patients presenting with steno-
sis or complete atresia. Treacher Collins patients present with maximum conductive hearing
loss often compounded by a high-frequency sensory component. This article describes the
otologic and audiologic diagnosis and management of TCS.

Key Words: Aural atresia, bone-conduction amplification, conductive hearing loss, mandibulo-
facial dysostosis, microtia, Treacher Collins syndrome

nfants and children with craniofacial anom- example, in a group of 1240 graduates of an
alies are at risk for otologic and auditory intensive care nursery, Smith and colleagues
deficits . The Joint Committee on Infant found that head and neck deformities were one
Hearing (American Academy of Pediatrics, 1982 ; of four risk factors (gestational age <- 36 weeks,
American Academy ofAudiology, 1991) has long meningitis, and ototoxic medications) that rep-
recognized congenital abnormalities associated resented in excess of 90 percent of all hearing
with defects of the ears, nose, or throat as a screening auditory brainstem response (ABR)
high-risk factor for hearing impairment . Cran- failures . Further, Halpern et al (1987) reported
iofacial anomalies represent between 2 and 5 per- that in a group of 820 high-risk infants, cranio-
cent of all risk factors on the high-risk register facial anomalies were one of two high-risk items
(Stein et al, 1983 ; Jacobson and Morehouse, (TORCH complex was the other) that predicted
1984 ; Jacobson et al, 1990 ; Smith et al, 1992). hearing loss with 98 percent sensitivity. Whereas
Whereas the overall incidence of congenital craniofacial anomalies represent a small pro-
abnormalities is small compared to other high- portion of infants at risk for hearing loss, when
risk items, it is most often associated with hear- identified, this category yields a high percent-
ing screening failure (Smith et al, 1992) and age of hearing loss .
subsequent diagnosed hearing impairment
(Alberti et al, 1985 ; Halpern et al, 1987). For The prevalence of aural atresia has been
reported to be about 1 in 10,000 live births and
"Department of Otolaryngology - Head and Neck is frequently observed in craniofacial and skele-
Surgery, The University of Texas-Houston, Health Science tal anomalies such as Treacher Collins syn-
Center, Houston, Texas and tDepartment of Otolaryngology drome (TCS) (Jahrsdoerfer et al, 1991). Whereas
- Head and Neck Surgery, Eastern Virginia Medical School, the majority of Treacher Collins patients present
Norfolk, Virginia with conductive pathology, sensory hearing
impairment has been reported. Thus, early diag-
Reprint requests : Robert A . Jahrsdoerfer, Department nosis and otologic and audiologic management
of Otolaryngology- Head and Neck Surgery, The University of hearing loss are essential in the rehabilitation
of Texas Medical School-Houston, 6431 Fannin MSB 6 .132, of infants and children diagnosed with cranio-
Houston, TX 77030 facial anomalies.

Journal of the American Academy of Audiology/Volume 6, Number 1, January 1995

Genetic syndromes that include congenital Tracher Collins syndrome is an autosomal
aural malformations of the external and middle dominant genetic disorder, the phenotypic expres-
ear involve the embryologic development of the sion of which is seen in the head and neck area .
first and second branchial arch . Unilateral Spontaneous mutation has also been reported
defects of the first and second branchial arch are (Pruzansky, 1973). The syndrome has full pen-
best described as hemifacial microsomia . Over etrance but variable expressivity even among
the past 20 years, we have evaluated over 1200 family members (Poswillo, 1976 ; Murty et al,
patients with a congenital ear malformation, 1988). TCS is an expression in its most severe
including 57 patients with TCS. This manu- form . Molecular genetic research has resulted in
script addresses the otologic and audiologic con- two recent publications in which the site of the
ditions and problems associated with Treacher gene for TCS has been confirmed on chromo-
Collins syndrome . some 5q (Dixon et al, 1991 ; Jabs et al, 1991).

TREACHER COLLINS SYNDROME Dysmorphology

T reacher Collins syndrome was first reported The fully expressed phenotype will mani-
around the turn of the century and has fest itself as characteristic dysmorphic fea-
since been considered a mandibulofacial dysos- tures involving the face, eyes, mandible, and
tosis (Franceschetti and Klein, 1949) having a ears (Jarsdoerfer et al, 1989 ; Kay and Kay,
genetic basis occurring during the early embry- 1989). As illustrated in Figure 1, the dysmor-
onic development from the first and second phology in the face area appears symmetrical
branchial arches (Gorlin et al, 1976). The patho- and includes downward sloping (antimon-
genesis leading to this syndrome has been attrib- goloid) palpebral fissures, colobomata of the
uted to abnormal neural crest cell migration lower eyelids, a depressed malar region, ret-
(Poswillo, 1975) or possible mutation in extra- rognathia, and usually malformed pinnae (Gor-
cellular development (Herring et al, 1979). TCS lin et al, 1990). Additionally, there may be
has a reported prevalence of 1 in 50,000 live cleft palate, scalp hair extending to the cheek,
births (Rovin et al, 1964; Frazen et al, 1967). Con- and a paucity of eye lashes medial to the lower
nor and Ferguson-Smith (1988) have reported lid notching .
that about 40 percent of new occurrences have
a positive family history and a 60 percent new While the soft tissue facial features of TCS
mutation rate (Gorlin et al, 1990). The syn- are bilaterally symmetrical, the bony facial
drome becomes progressively more severe in skeleton may be asymmetrical . Right-left asym-
succeeding generations and may become lethal metry is common and the most consistent skele-
(Duke-Elder, 1952 ; Gorlin et al, 1990). tal aplasia involves the zygomatic process of
the temporal bone (Marsh et al, 1986).

Figure 1 Characteristic dysmorphic features seen in 1Yeacher Collins syndrome . See text for a detailed description
of typical phenotype.

94

Treacher Collins Syndrome/Jahrsdoerfer and Jacobson

Figure 2 Congenital external ear malformation. Grade Otologic Examination
III microtia . See text for description.
Fifty-seven patients with TCS were evalu-
Clinical Features ated over a 20-year period . Thirty-six patients
were seen subsequent to 1982 when we began
Ears the routine use of high-resolution computed
tomography (CT) scanning to assess the temporal
The clinical features of TCS involve bilat- bones.
eral abnormalities of the pinna, external audi-
tory canal, tympanic membrane, and middle ear Scanning was performed with a GE 9800
space (Jahrsdoerfer et al, 1989) . The external scanner in the 30-degree axial and 105-degree
ears are malformed bilaterally, and the degree coronal planes . Contiguous 1.5-mm slices at 1.0-
of microtia is often equal. Microtia has been mm intervals were taken with a 0.5-mm over-
reported to be as high as 85 percent, with one lap to better detail minute structures within
third of patients presenting with stenosis or the temporal bone . Images were reconstructed
complete atresia (Stovin et al, 1960). Most from the raw data with a standard GE bone
patients have grade III microtia (an amor- algorithm program and were displayed and pho-
phous mound of skin and cartilage on the lat- tographed with an extended window . Life-size
eral face) with complete atresia (Fig . 2) . A few images were produced by use of the 512 matrix,
patients will have grade II microtia (the exter- a display field of view of 12 .8, the specific x and
nal ear is smaller than normal - about half or y coordinates, the multiple display photographic
two thirds normal size - but has fairly good format, and a large image size on the filming
form) with an epithelial meatal pit or, less com- device . It is important to emphasize that simple
monly, stenosis of the external ear canal. A magnification techniques may not be used, as
smaller number yet will have a very mild detail will be lost .
expression of the phenotype in which the exter-
nal ear canal is almost normal . In this later Thirty-two of 36 patients had temporal
group, one may find a patent external ear canal bone CT imaging . As previously reported
and an identifiable ear drum on otoscopy (see (Jahrsdoerfer et al, 1989), there were three
case study in this article) . The middle ear struc- unique radiographic findings noted in this
tures often reveal a fused malleus/incus rem- patient population : (1) the mastoid bone was
nant (90%) and an abnormal stapes (73%) never pneumatized; (2) there was ossicular
(Jahrsdoerfer et al, 1989). dysjunction; and (3) a bony cleft was found on
the lateral aspect of the temporal bone .

If the temporal bone was pneumatized on
tomography, it was usually at the level of the
middle ear. Occasionally, pneumatization
extended to the aditus, rarer yet to the antrum,
but the mastoid was never aerated. Instead,
there was only bone marrow. The clinical sig-
nificance of this finding was readily seen in
those patients who had surgery. There were no
landmarks to follow in the surgical dissection,
and the bone marrow tended to bleed through-
out the operation.

Ossicular dysjunction, in which the primi-
tive and fused incus/malleus remnant was found
3 to 4 mm distal to the stapes and oval window,
created a challenge to the successful recon-
struction of the ossicular chain. The distance was
often too great to interpose a strut, and a rudi-
mentary incus/malleus complex would not
accommodate a stapes prosthesis .

The bony cleft in the lateral aspect of the
temporal bone presented a particularly dangerous
situation. The facial nerve often exited the tem-
poral bone through this cleft, where it was

Journal of the American Academy of Audiology/ Volume 6, Number 1, January 1995

enshrouded in soft tissue . In this location, it was clinical population found that about 17 percent
vulnerable to injury from surgical dissection . display a moderate degree of mixed hearing
loss, defined by either a three-frequency bone-
High-resolution CT imaging of patients with conduction (BC) pure-tone average greater than
TCS will typically show that the malformation 20 dB, or BC ABRs in excess of 30 dB nHL. The
is limited to the middle ear and external ear range of hearing loss may vary greatly based on
canal, with normal inner ear architecture (Jahrs- the degree of otologic abnormality. Further, age
doerfer et al, 1985). Thus, CT correlates well with of the patient, audiologic experience with con-
the audiologic evaluation, which classically genital ear malformations, and available elec-
shows a conductive hearing loss . This is not trophysiologic measures likely contribute to the
always the case, however. In the severe expres- uncertainty of auditory sensitivity, particularly
sion of the syndrome, inner ear abnormalities in the infant .
may be found. We have seen this in one patient
in whom the vestibule was saccular and the Audiologic Evaluation
horizontal semicircular canal widened. This
patient had anotia, severe hypoplasia of the The Treacher Collins patient presents a
temporal bones, and other stigmata of the syn- unique opportunity for the audiologist. Gen-
drome to include a small oral cavity and a cleft erally, most patients with TCS demonstrate a
palate . The patient required a tracheostomy at maximum conductive hearing loss with a ris-
birth for upper airway obstruction. ing (low to high frequency) air-conduction (AC)
pure-tone threshold configuration . Figure 3
We have developed a grading scheme for illustrates a typical pure-tone audiogram from
the surgical selection of patients with congeni- a 13-year-old female TCS patient with bilateral
tal aural atresia based on a top score of 10 points atresia. As noted, a symmetrical rising config-
(Jahrsdoerfer et al, 1992). Most patients with iso- uration is most prevalent but often accompa-
lated microtia/atresia who are candidates for nied by a decrease in hearing sensitivity in
surgery grade out to be 7/10 or 8/10 . This trans- the 4000- to 8000-Hz range. AC speech recog-
lates to a 70 to 80 percent chance of achieving nition scores vary depending on the degree of
normal or near normal hearing (15-25 dB pure- pathology and ultimate stimulus presentation
tone average and/or speech thresholds) through level. BC speech threshold scores are usually
surgery. Only about 50 percent of patients with consistent with three-frequency BC pure-tone
nonsyndromic microtia/atresia become candi- averages (albeit, the better cochlea contribu-
dates for surgery. In TCS, however, the per- tion). Pure-tone AC and BC threshold mea-
centage is much less, about 20 to 25 percent. The surement remains the audiologic foundation
reason for this is poor middle ear development. of the hearing evaluation .
The size of the middle ear space is small, often
being represented by little more than a bony slit Because the majority of Treacher Collins
in the temporal bone . Moreover, the dominant patients exhibit maximum bilateral conductive
middle ear malformation characteristically hearing losses, the masking dilemma (Jerger
involves the stapes/facial nerve axis . It is not and Wertz, 1959) is a major audiologic chal-
uncommon for the facial nerve to be bare and dis- lenge . In cases of unilateral atresia, this is of
placed over the oval window. The net result of lesser concern; however, it is critical to accu-
these findings as determined by the preopera- rately demonstrate normal cochlear function
tive CT scan is a low numerical grade, often in the nonatretic ear for surgical consideration
5/10 or less. The patient is therefore judged not and ultimate rehabilitative strategies . The
to be a candidate for surgery. While one can audiologic protocol used in the evaluation of
always perform a surgical exploration, the risk TCS with bilateral atresia is straightforward .
of operating outweighs the potential benefit to Pure-tone and speech threshold values are
the patient. For this reason, we advocate that if supplemented by sensorineural acuity level
atresia is complete, the ear should not be opened (Jerger and Jerger, 1965) scores . On occasion,
for hearing purposes . differences between AC and BC speech recog-
nition scores are observed . In the presence of
Auditory Deficits maximum conductive pathology, it may not be
possible to present AC speech stimuli at a PB
Although sensory hearing loss has been maximum level, resulting in less than opti-
reported in TCS (Hutchinson et al, 1977), con- mum recognition scores . An accurate deter-
ductive hearing loss is most frequently observed
secondary to bilateral atresia. A review of our

96

Mreacher Collins Syndrome/Jahrsdoerfer and Jacobson

Right Ear DM: 13 yr/f Left Ear Figure 3 Audiometric patterns
Pure Tone Audiometry from a 13-year-old Treacher
Collins patient with complete
bilateral aural atresia .

.268 .68 18 28 4K 88 dB ,268 .68 1H 2S dB OK
0

20

[U0 40
60

s0

100

ST : 65 dB Unmasked (tasked ST: 75 dB
Recognition 9246 Recognition 8846
Bone Conduction no AC 0SaL Bone Conduction
ST: 10 dB Rap- \ HC A "A ST: 15 dB
Recognition 9246 Recognition 9246
Acoustic uncrossed 0
Reffez crossed

mination of speech intelligibility is critical, as For BC click stimulus, we use a standard cal-
this weighs heavily in the decision to operate ibrated bone vibrator (Radioear B-70A) . It
and also to measure postoperative success . must be noted that bone vibrator output
Thus, BC speech recognition scores are an decreases in the high-frequency region, and as
important component when surgery is a future such, the relationship between BC and AC
consideration . click stimulus are not identical. Further, there
is a substantial loss of energy with bone-con-
Electrophysiologic Measures ducted signals, usually about 40 dB, limiting
the maximum hearing level output to 50 to
Because of the significant dysmorphologic 55 dB nHL, depending on the evoked potential
features present at birth, most newborns with system and its output . The result is an elevated
TCS are readily identified . Since bilateral atre- threshold level compared to AC click stimuli.
sia is usually accompanied by a 45- to 65-dB con- The BC vibrator is typically calibrated using
ductive hearing loss, it is essential to identify the a group of normal hearing young adults, estab-
degree of conductive component and to determine lishing an average threshold for the BC click
residual cochlear function. In both unilateral stimulus and noting correction threshold dif-
and bilateral atresia, the establishment of audi- ferences . A major caveat is the area of testing
tory sensitivity is critical for rehabilitative mea- and the effects of ambient noise on stimulus
sures, including appropriate need and dispens- calibration and ABR testing. Significant dif-
ing of amplification. ferences in threshold levels are possible if
environmental noise is not taken into consid-
To date, the best method to measure hear- eration. Finally, similar BC problems (place-
ing sensitivity in infants and children, particu- ment, skull pressure and impedance, stimulus
larly under the age of 3 years, is the use of the distortion, intersubject threshold variability,
ABR. In our technique, both AC and BC stim- high-pass filter cut-off settings, masking
uli are used in a multichannel recording proto- dilemma, etc.) found in conventional behavioral
col to measure auditory threshold function and testing remain a consideration in the suc-
integrity. The following is a summary of elec- cessful recording of ABR BC thresholds . There
trophysiologic parameters used at our facility to are several excellent BC ABR reviews in the
objectively evaluate Treacher Collins patients . literature, and the reader is referred to Hall

All Treacher Collins patients undergo ABR (1992) and Stapells and Ruben (1989) .
evaluation on their initial visit. In TCS patients Both AC and BC threshold sensitivity are
with aural atresia, conventional TDH-39/49
earphones are used for AC click stimulation. estimated as the lowest replicable wave peak

Journal of the American Academy of Audiology/Volume 6, Number 1, January 1995

component, usually wave V Masking is not Congentital Aural Atresia
possible in bilateral aural atresia. However, in Unilateral - right
unilateral atresia, masking is used in the nona-
tretic (contralateral) ear for those cases hav- LATENCY 4 .00 ms/div
ing normal anatomical ear landmarks on oto-
scopy and those with partial and/or stenotic ear Figure 4 Bone-conduction ABRs obtained from a 2-year-
canals where insert transducers can be used . old child with congenital unilateral ear anomaly. Simul-
To assure ear specificity, we have adopted a taneous two-channel recordings of ipsilateral versus con-
method of clinical ABR analysis advocated by tralateral wave I support confirmation of ear-specific
Hall et al (1984) . This process evaluates simul- responses .
taneously recorded ipsilateral and contralat-
eral ABR measures . Briefly, the presence of a Amplification
replicable ipsilateral wave I response (elec-
trode ipsilateral to stimulation) in the absence Our experience has been that TCS infants
of a corresponding wave I peak component with bilateral atresia receive maximum ben-
recorded from the contralateral (nonstimu- efit through the use of BC amplification. Alter-
lated) ear ensures an ear-specific ABR thresh- natively, Dunham and Friedman (1990) have
old. An example of this technique is demon- reported on the use of BC implantable hear-
strated in Figure 4, where simultaneous (ipsi- ing devices in four patients with bilateral
lateral/contralateral) ABR BC recordings from atresia, including one patient with TCS . Pre-
a 2-year-old patient with congenital unilat- and postoperative comparative AC scores
eral aural atresia are illustrated . ABR findings improved between 40 and 60 dB . They noted
play an important role in the audiologic and stable hearing improvements after implan-
surgical management of TCS patients, and, tation with respectable patient acceptance . In
as a result, complete intensity-latency func- contrast, Yellin et al (1991) reported that in
tions are essential. a group of 21 patients implanted with a BC
device, only 7 indicated benefit, 12 were
Auditory (Re)habilitation nonusers, and 1 patient complained of per-
sistent pain . One patient was lost to follow-
For the audiologist working closely with up . Further, Abramson et al (1989) have
the otologist, the rehabilitation component of shown that the percutaneous bone-anchored
TCS patients presents another intriguing eval- hearing aid offered no better threshold sen-
uative approach . Generally, the attending audi- sitivity than conventional BC hearing aids .
ologist must assume responsibility for the diag- Conventional BC amplification has greater
nostic evaluation (previously described) . How-
ever, because the majority of TCS patients
evaluated travel from outside our geographic
area, our position has been that the selection
of amplification is a mutually inclusive deci-
sion on the part of the physician, the diag-
nostic audiologist, and the ultimate dispens-
ing audiologist. Because the patient must
receive routine audiologic evaluation and hear-
ing aid management on a local (i .e ., close to
home) basis, it is in the best interest of the
patient that a second audiologist assume pri-
mary rehabilitative responsibility. Further,
speech and language programs are best accom-
plished under the guidance of local profes-
sionals. Most importantly, open lines of com-
munication must be maintained between the
diagnostic and dispensing/rehabilitation audi-
ologist in order to closely follow patient
progress .

98

Mreacher Collins Syndrome/Jahrsdoerfer and Jacobson

available gain and wider frequency spectrum . inclined to maintain their use of BC amplification.
Our personal experience with the implantable Following surgery, periodic visits to an otologist
BC device suggests that the careful selection are necessary to clean and remove accumulative
of surgery candidates yields better hearing epithelial debris from the reconstructed ear canal.
results. Regardless of the type of amplifica- Tenderness and infection frequently preclude the
tion, the earlier the detection and eventual long-term use of AC hearing aids .
hearing aid dispensing, the better the oppor-
tunities for normal speech and language CASE STUDY
development.
W hen first examined, EK was a 4-year-old
Follow-up Services girl displaying mild, dysmorphic TCS fea-
tures. The left external ear was almost normal
In cases of aural atresia with accompany- (grade I) in appearance with a visible tympanic
ing grade III microtia, consultation should be membrane . Microscopic inspection showed a
sought with either a plastic surgeon or a facial rudimentary malleus imprint in the ear drum
plastic surgeon to plan auricular reconstruc- that was probably free-floating and did not rep-
tion around 6 years of age. At about the same resent a malleus handle . There was a soft tis-
time, the child should undergo definitive behav- sue structure adherent to the undersurface of the
ioral audiometric study and repeated ABR drum and crossing the middle ear, probably rep-
measures if required . High-resolution CT scans resenting the chorda tympani nerve or a partial
of the temporal bones should be ordered. This
latter study is the single most important study atretic plate.
obtained for surgery and will determine if the The right ear canal narrowed to approxi-
child is a candidate to have his or her ear
opened for hearing purposes . It should be mately 3 mm, making it difficult to see a smaller
remembered that the information gathered ear drum . No ossicular landmarks could be iden-
from the CT scan concerns primarily bone tified . The external ear on the right side was a
structures (ossicles, labyrinthine windows, grade II microtia and cup-shaped . Based on ini-
inner ear anatomy, facial canal, etc .) and also tial examination, a complete work-up includ-
some soft tissue (facial nerve) . Moreover, the ing CT scan and audiometric and ABR evalua-
course of the facial nerve can be accurately plot-
ted with CT . tion was scheduled.
Audiometric evaluation of EK is presented
The course of long-term rehabilitative man-
agement is dictated by the surgical intervention . in Figure 5. Test findings resulted in a bilateral
If a patient with bilateral atresia is not a sur- conductive hearing loss with greater severity
gical candidate, the continued use of BC hear- in the right ear. Speech recognition scores were
ing aids is advocated. However, if surgery is within normal limits for both AC and BC speech
performed and is successful (postoperative AC stimuli. Because of the age and reliability of
pure-tone and speech scores less than 25 dB), the patient, ABR measures were undertaken to
several options become available to the patient confirm behavioral testing using standard AC
and audiologist. Depending on the degree of and BC click protocol . ABR tracings are shown
successful auricle reconstruction, postauricular in Figure 6. ABR AC thresholds were observed
amplification and/or in-the-ear hearing aids at 35 dB in the right ear and 55 dB in the left .
may be considered . BC ABR traces are seen in Figure 7. Note the
threshold level of 15 dB in the right ear and the
When surgery for hearing purposes is con- ipsilateral/contralateral comparison at 25 dB
traindicated, a small ear canal opening may be cre- nHL . The absence of wave I from the con-
ated for the purpose of accommodating a high-gain tralateral side in the presence of wave I from the
AC hearing aid. Interestingly, we have observed stimulated side confirmed near normal cochlear
children who have become so dependent on the function on the right.
quality of BC amplification that they useAC hear-
ing aids only as a supplement while maintaining The results of the CT scan disclosed that
full use of their BC hearing aid. Others have not the facial nerve encroached upon the stapes,
found the use ofAC amplification adequate since which, in turn, was not connected to the
middle ear function may not be optimized even incus/malleus complex. To improve hearing,
after correctable surgery. These patients are an attempt would have to be made to rebuild
the ossicular chain, including a prosthesis from
the stapes or stapes footplate to the ear drum .
The constraining factor was the encroachment

Journal of the American Academy of Audiology/Volume 6, Number 1, January 1995

ER 4 yr/f Figure 5 Audiometric evalua-
Right Ear Pure Tone Audiometry
tion of EK, a 4-year-old Treacher
.26K .65 IX 2S 4K SK dB .265 .6K 1K 25 45 68
0 Collins patient with grade I micro-

tia of the left ear and grade II
microtia ofthe right ear. External
ear canals were stenotic but
patent bilateral .

20

40

00

t30

100

ST: 50 dB MUM Uamuked Masked ST: 30 dB
Recognition 96% Recognition 100%
Bone Conduction RRspoeae WBC ASAL "" Bone Conduction
ST: 10 dB uncrossed 0 ST : 15 dB
Recognition 92% Acoustic crossed Recognition 96%
Retie:

of the facial nerve, which was malpositioned The child currently wears bilateral postauric-
over the oval window. The risk of temporary or ular hearing aids and is doing well in school .
permanent facial paralysis from the nerve This case study underscores the fact that in
being deprived of its immediate blood supply TCS there is no guarantee that middle ear
was a major concern. A grade of 5/10 for the left structures have developed normally in the
ear and 3/10 for the right ear did not warrant presence of only mild (grade I and II microtia)
surgery in view of the risks.
external ear and auditory canal pathology.

Air Conduction Left Ear

Latency 4.0 mt/div aec 40 sdv
Figure 6 Air-conduction ABR traces from the right
and left ears of EK, a 4-year-old Treacher Collins patient. Figure 7 Bone-conduction ABR traces from the right
Thresholds were measured to 55 dB nHL in the right ear ear of EK, a 4-year-old Treacher Collins patient. Thresh-
and 35 dB nHL in the left ear. olds were measured to 15 dB nHL . Note the ipsilat-
eraUcontralateral ABR comparison at 25 dB nHL. No
100 wave I peak is evident from the contralateral side, assur-
ing ear-specific responses.

Treacher Collins Syndrome/Jahrsdoerfer and Jacobson

SUMMARY simultaneous multi-channel auditory evoked response
recordings . Laryngoscope 94 :883-889 .
reacher Collins Syndrome patients have
T severe middle ear malformations that make Halpern J, Hosford-Dunn H, Malachowski N. (1987) . Few
reconstructive surgery for hearing difficult, if not factors that accurately predict hearing loss in "high risk"
impossible . We now recommend that only those neonates . Ear Hear 8 :21-25 .
patients who manifest a mild phenotype of the
syndrome be operated on. This excludes patients Herring SW, Rowlatt UF, Pruzansky S . (1979). Anatomical
with aural atresia and limits surgery to those with abnormalities in mandibulofacial dysostosis . Am J Med
external ear canal stenosis or those in whom the Genet 3 :225-259 .
malformation is confined to the middle ear. Accu-
rate auditory assessment is essential in this pop- Hutchinson J, Caldarelli D, Valvassori G . (1977) . The
ulation and provides pertinent information in otologic manifestations ofmandibulo-facial dystosis. Bans
the overall care of Treacher Collins syndrome Am Acad Ophthalmol Otolaryngol 84 :520-528 .
patients . Finally, a team approach is essential and
in the best interest of the patient. Jabs EW Li X, Coss CA, Taylor EW Meyers DA, Weber
JL. (1991) . Mapping the Treacher Collins Syndrome Locus
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