Ear Malformatlon and Hearlng Loss in Patlents

with Treacher Collins Syndrome

GAYLENE PRON, PH.D.

CHERYL GALLOWAY, M.A.
DEREK ARMSTRONG, F.R.C.P. (C)
JEFFREY POSNICK, D.M.D., M.D., F.R.C.S. (C)

Although t'te hearlng loss of patients wlth Treacher Collins syndrome is well
documented, few studies have reported jointly on their hearing loss and ear
pathohgy. This paper repons on the heering loss and computerized tomogra-phy
(CT) assessments of ear malformatlons In a large pedlatrlc serles of patients wtth
Treacher Collins. Of the 29 subjects aseessed by the Cranlofacial Program between
1986 end 1990, palred audlologlc and complete CT agsessments were avallable for
23 subjects. The external ear canal abnormalitlee wre targely symmetrlc, elther
bilaterally stenotic or atretic. In most cases, the middle ear cavlty was bllaterally
hypoplastic and dysmorphic, and ossicles were symmef-rically dysmorphlc or
m188ing. Inner eer structures were normal In ell petlents. The majority of patlents
had a unilateral or bilateral moderate or greater degree of hearlng loss and almost
half had an asymmetrlc hearlng lose. The hearing loes of all subjects was
conductlve, except tor three whose loss was bilateral mlxed. Two types of
bilaterally symmetric hearing losa conflguratlons, flat and reverse sloplng, were
noted. Conductive hearlng loes in patlents wlth Treacher Collins is malnly
attributable to their middle ear malformatlons, whlch are slmilar for those of
patbents with malformed or mlssing ossicles.

KEY WORDS:
audiometric examinations, computerized tomogrQhy,
conductive hearing Ioss, ear malformations, Treacher
Collins syndrome

Treacher Collins syndrome was first reponed in 1889 by charactcrize the syndrome and those that have, have been
Berry, an ophthalmologist. and later in 1900 by Treacher surgical (Holborow, 1961; Herberts, 1962: Femandez and
Collins, anothcr ophthalmologist. Although a relatively rare Ronis, 1964) and pathologic (Sando ct al., 1968; Behrents et
condition, it is one of the more readily identified craniofacial al., 1977; Herring et al., 1979) studies involving small num-
syndromes in which dysmorphic features have been well bers of selected patients. Although, several radiologic studies
documented in many studies and reviews (Franceschetti and (Stovin et al„ 1960; Hutchinson ct al„ 1977; Caldarelli et al.,
1980; Mafee and Valvassori, 1981; Phelps et al., 1981) have
Klein. 1949; Maran, 1964; Rogers. 1964, 1979; Mafee and
examined the anomalies of the ears of patients with Treacher
Vaivassori, 1981; Gorlin et al., 1990). Few, however, have
reponed detailed findings of the abnormalities of the ear that Collins, these have largely been cephalometric or tomogramic
examinations. Two computerized tomography (CD studies
(Marsh et al„ 1986: Jahrsdoerfer et ale, 1989) have been
Dr. Pron is an epidemiologist for the Craniofacial Program, The Hospital on Treacher Collins patients, but the study by Marsh
for Sick Childrcn, Toronto. and Lecturer with the Dcpanmcnt of Preventive

Medicine and Biostatistics. University of Toronto. Ms. Galloway is Director et al. (1986) conccntrated on facial rather than pctrous bony
of the Audiology Depanment at The Hospital for Sick Children and Lecturer anomalics. T
with the Deparlment of Otoiaryngology, Universily of Toronto and the
Department of Communicative Disorders, University of Westem Ontario, Other CT investigation by Jahrsdoerfcr et al.
London, Ontario, Dr. Armstrong is a ( 1989) did not report associated audiologic findings. fie few
of the Departmcnt of Diagws-
tic Imaging, Division of Neuroradiology, studies that rcponed hearing loss in these patients (Stovin et
Hospital for Sick Children and al., 196(); Femandez and Ronis. 1964; Hutchinson et al.,
Associatc Professor with the Department of Radiology. University of
Toronto. Dr. Posnick is Medical Director. Craniofacial Program. Deprtment 1977) usually did so for sma]l numbers of sclccted patients
of Surgery, The Hospital for Sick Children and Assistant Professor with the and did not relate detailed audiometric findings with anato-
Dqwtment of Surgery. University of Toronto. Toronto, Ontario.
mic information. The relationship between particular car mal-
fris paper was presented in pan at the annual
of the Cleft formations and hcaring loss has not been explored fully.
Palate•CraniofEial Association, Hilton Head, Soulh Carolina, in May. 1991. We present the Itsults of detailed CT radiologic and audi-
Reprint Equests: Dr. Gaylene Pron, Craniofacial Program, The Hospital

for Sick Children, 555 University Avenue. Toronto, Ontario. Canada MSG ologic investigations of a large series of pediatric patients
with Treacher Collins. The objectives of the study wcre
97
98 Clefi Palnte-CraniofaciaJ Journal. January 1993. Vol. 30 No. I

twofold: first, to determine the degrec and symmetry of the and 95% confidence limits for group hearing loss means were
outer canal and middle ear abnormalities and hearing loss; calculated. Differences between group means werc tested by the
and second, to explore the relationship Student's t statistic. Pearson product-moment correlation
hearing loss and
ear abnormalities in patients with Treacher Collins. Effective cocfficients (r) for right and left ear PTA values were calcu-lated
management of the hearing loss in these patients is also to deterrninc the asymmetry of hearing loss. Associa-tions in
discussed. contingency tables wcre asscssed with the chi-square statistic
and Fisher's exact test for small sample sizcs. Linear trends were
METHODS assessed with the Mantel-Haenzel chi•square statistic. Test
statistics associated with probabilities of .05 or
Subjects

All pediatric patients with Treacher Collins syndrome seen

in the Craniofacial Program at fie Hospital for Sick Children in
Toronto, Onta.rio, between 1986 and 1990 were included in
this study. Of the 29 (13 females, 16 males) patients seen,
audiometric test tindings were available for 26 (46 ears), CT
scans for 24 (48 ears), and paired audiometric and CT exami-
nations for 23(46 ears) subjects. Patients ranged in age from
2 months to 18 years (median, 8 years). All patients, except
for two sisters, were unrelated. None of the patients had
undergone surgery for their ear anomalies and at the time of
their examination, none had any tympanostomy tubes or
recorded middle ear effusion.

Measurements

We obtained CT scans of petrous bone with a GE 9800 unit

set at 1 ,5-mm slice thickness in axial and coronal planes
using standard bone algorithms. All scans were reviewed by a
pediatric neuroradiologist. The following anatomic area.s
were asscsscd scparately: the cartilaginous and bony
FIGURE 1 A, Coronal CT scan of right petrous bone showing normal
portions of the external auditory canal; the cavity and
bony (curved a•row) and son-tissue (straight arrow) regioos of the
ossicles of the middle ear; and the cochlea, vestibule, canals.
exter• nal auditory cana'.
and internal auditory meatus of the inner ear.
All 26 audiometric examinations (
1 9 conventional, 6 visual
reinforcement, and I play audiometry) were performed by
experienced pediatric audiologists. Bilateral hearing test re-
sults were available for 20 subjects and sound-field (better
ear) results for 6 of the younger patients. Hearing loss cate-
gory, defined by pure tone average (PTA),
the
average threshold over three frequencies, 500, I ()W, and 2000
Hz, and was based on categories defined by the American
National Standards Instituta Hearing loss was categorized as
slight ( 16-25 dB HL), mild (26-40 dB Hl„), moderate (41-55
dB HL), moderate-severe (56-70 dB HL), severe (71-90 dB
HL), and profound
91 dB HL). The configuration or pattem
of hearing loss was assessed as a constant (flat), increasing
(sloping), or decreasing (reverse
pattern ofhearing loss
over the increasing frequencies.

Analysis

All calculalions were performed with SAS statistical soft-

FIGURE 1 B, CT scan of left petrous bone showing of bony (cuned
ware. Patient audiometric and CT infomation was analyzed arrow) and soa-tissue (straight arrow) rqions of the exter-
sepamtely, then jointly. Average hea.ring loss (VLA dB HL) nal auditory canal.
 Pron ei HEARING LOSS IN TREACHER COLLINS 99

less were considered significant; all probability (p) values

quoted were

RESULTS

-me findings for this palient population are presented

in three stages: (l) CT anatomic reviews for 24 subjects,
(2) audiologic examinations for 26 subjccts, and (3)
paired CT and audiologic information for 23 subjects.

Computerized Tomography

fie majority of patients had largely symmetric (21/24, 88%)

extemal auditory canal abnormalities, either stenotic
( 15/48, 31%), atretic (26/48, 54%). or normal (7/48, 15%) canals
(Fig. l). In some canals, the cartilaginous ponion was normal
and the bony portion stenotic. Canals that werc atretic were
atEtic for both the cartilaginous and bony portions. A grading
scheme was therefore designed to differentiate be-tween
canals differing in degree of stenosis: stenotic-l for canals with
either pan norrnal and stenotic-2 for canals with both pans
stenotic.
Middle ear cavity deformities were symmetric (2.304, 96%)
and were eithcr hypoplastic (41/48, 85%) or missing (2/48,
4%). Cavities that were hypoplastic were also deformed,
assuming a rectangular rather than oval shapc. Hypoplasia FIGURE 2 A, Axial CT scan ot len petrous bone showing normal size
occurred throughout the cavity above and bclow the semicir- and shape of middle er cavity (armw).
cular canal (Fig. 2), A bony bar (5 thin and 4 thick) was
observed bilaterally in 8 patients and in I patient who was
atretic only on onc side. Ossicle deformities were completcly
symmetric and were largely hypoplastic (22/48, 46%) or
missing (22/48, 46%). Ossicles, both the malleus and the
incus, that were hypoplastic also tended to be ankylosed
(18/22, 82%) to either the lateral or medial wall of the tym-
panic recess (Fig. 3).
fie momhologies of the outer canal and middle ear (Table
l) appeared to be related. Increasing degrees of outer canal
malfon•nations (normal-stenotic-atretic) were directly associ-
ated with ossicle and cavity malformations (p < .OOO I Of the
27 atretic canas, 18 (67%) had missing ossicles and 9 (33%)
had small and ankylosed ossicles. Although there were few
normal outer ear canals (7/48, 14%) and even fcwer normal
middle cavities (3/48, 6%), normal outer ear canals did pre-
sent with abnorrnal middle ear cavities and ossicles.
No abnormalities were noted in the inner ear structures
(i.e„ cochlea, vestibule, canals, and internal auditory meatus).

Audiologic FIGURE 2 B, Axial CT scan of len petrous bone showing se•erely

hypoplrtic middle er cavity (arrow) charactedst;c of thee
Treacher Collins patients.
Aithough, hearing Joss ranged from mild to severe (average 58
dB HL), the majority of the patients (25/26, 96%) had a unilateral
or bilateral moderate or greater degree of hearing loss. Paired correlation coefficient (r = .70) for right and left ear PTA
categories of hearing loss showed that asymmet-ric (n = 12) values was modest.
k*aring loss was as common as symmetric (n = All subjects, except thrce with bilateral mixed (conductive and
8) hearing loss. However, hearing asymmetry for these pa- sensorineural) origins had conductive losscs. Hearing loss for
tients was a difference of only one category of loss, and the these subjects was moderate or greater with a slight-
100 Cleft Palate-Craniofacial Joumal, January 1993, Vol. 30 No. I

TABLE 1

Morpholoxy in Patients with Trencher Collins Syndrome

External
Audüory
Canal Normal Hypoplastic Ankylosed

Normal 2

Stenotic• I* 4

Stenotlc-. 0

Atrctic

2 4 2

*Sle.mli--l reptesznts Ibe degrec 01' of a canal Wilh normal cartilagc und
tme
StencNic-2 repretent.s
degrer of stcmsis ranal with stenotic canilage aad hmy
pcwtions.

Relationships between ear morphology (outer and

middle) and two aspects of hearing loss, degree and
configuration, were explored by comparisons within the
same subject. fie relationship between the morphology of
the external auditory canal and hearing loss category is
detailed in Table 2. Since

FIGURE 3 B, Coronal cr scan of right hypoplgstlc ossicular chain

asimilated to the medial wall of a
middle ear cavity.

to-mild sensorineural component. All three subjects had bi-

laterally small ossicles and middle ear cavities, and each had
a diffetM1t type of external auditory canal (i.e., normal, steno-
tic, and atretic).
Paired configurations of hearing loss, unexpectedly showed
two patterns of loss: II were bilaterally flat, and five sloping
(largely reverse). The configuration ofhearing loss was more
symmetric (
1 6/20, 80%) than the degree of hearing loss
(8/20, 40%) in these patients. There was no association (p
= .352) between configuration and degree of hearing loss in
these subjects.

Paired Audiometric and Computerized

Tomographic Findings
hearing loss is with canal deformiaies, the loss
reponed for subjects with normal outer canals can be attrib•
uted to their middle ear deformities. The two difTercnt Icvcls of
canal stenosis. one with stenotic bone and the Other with
stenotic
and cañilage, do not appear to be associated
with different levels of hearing loss, on average 53 and 54 dB
HL, respectively. However, there is an overall direct associa-
tion between incrcasing canal malformation and degree of
hearing loss (p < .OWI
Middle ear anomalies and hearing loss relationships are
outlined in Table 3. Since almost all of the cavities were
hypoplastic and only ossicle morphology varied in Ihese
subjects, hearing loss was compared over ossicle differences.
Hypoplastic, ankylosed, and missing ossicles appear to be
associated with
although not clinically significant,
levels of hearing loss, on average 52.56, and 60 dB HL.
The rcsults pmscntcd to this point al low for an estimation of
the degree of hearing loss attributablc to diffcrcnt car malfor-
mations. An outline of the average degrcc of hcaring loss
associated with different malformations in patients with

TABLE 2 Paired External Auditory Canal Morphology and Degree of

Hearing Loss in Patients with Treadler Collins Syndrome

Hearing Loss Category

External Moderate- N, PTA.

Moderate
Auditory Canal Mild Severc (95% CL)

Normal 2 3
Stenotic-l * 4 2

Stenotic-2 4 3 8. 54<43-66)
Atretic 3 19 22. 62<60-63)
N, VTA. 3. 30(19-41) 14, 52(50-53) 24, 6462-66)
(95% CL)q

N
PTA
Number of sut*ects.
Pure
ewrage.
= Canal wi&l nomtal carulage and ste1K)tic h-»ne.
'Stenatic-2 Can»l with stenoaic carti]age and bonc.
coat'dence limil for the group mean heuring loss.
 FIGURE 4 Outer and middle ear malformations and attributable heving
loss. Summ•ry of average and 95% conmence limit of hea*ng los (PTA)
TABLE 3 Palred OsslcJe Malformation and Degree of Hearing Loss associ8ted with outer and middle ear malformations.
in Patients with Treacher Collins Syndrome

Hearing Loss Caregory*

Moderate,
Mild
Ossicles Moderate Severe

Hypoplaslic 3 52 43_ )
Ankylosed o 2. 46
Hypoplastic 5 10 17. 56(50-6.3)
and
Ankylosed
Missing 5 13 18.
N, PTA 14, 52(.so-fi3)
(95% CL)

PTA Numbcr of *lbjects.

Purc

avcragc. hcaring [ms; orz subJcI..'1 w Ith smalland ankylmcdoss•cles

'Five subjccts had obcr

bencr
moderatc-scvere hul eni«ing osic)es•. all excert Mie had a

modcraE seterc grcatcr &grcc 55 dB 81-1 of hcaring Ioss,

Treachcr Collins is summarized in Figure 4. Nonnal, stenotic,

or atretic extemal auditory canals, combined with malformed
middle ears (largely malformcd or missing ossicles and small
cavities), are associated with an average 44, 54, and 62 dB
HL, respectively, Most of the hearing loss in thesc patients,
on average 44 dB HL, is therefore attributable to their mal-
formed middle ear. Stenotic or atretic external canals contrib-
ute approximatcly an additional 10 (54 to 44) and 18 (62 to 44)
dB HL. respectively.
n-le relationship between the configuration of hearing loss
and ear morphology is documented in Table 4. fierc is an
overall association (p < .01 ) betwcen configuration and
exter-nal auditory canal deformities. Flat loss is more
associated with the atretic canals; reverse sloping loss tends
to bc more associated with stenotic canals.
relationship between ear
malfomation and configuration appears to be more predic-

Malformed Normal
Middle Ear 44 (284)) db I IL

Malformed Stenot
54
Middle Ear

Malformed
c Middle Ear Canal 62 (60-65) db HL
 TRF.ACHER COLLINS and middle ear malfomations that Phelps et al. (1981) noted in
Pron et al., HEARING LOSS 101
patients with hemifacial microsomia. Our data, like theirs,
does not support

External Auditory Canal and Connguration or

TABLE 4 Hearlng
and Loss in Patients with Treacher Collins
Svndmme
Configurarion of Loss

External Audirory
Canal Reverse Sloping Total

Normal 3 5

Stenotic- I 5 6

Sten01ic-2 4 4 8

Atretic 14 3 17

Total 22 14

*Five Nibjccts had *'l.nd rcsLLlts (i e.. car only) and all had atrelic 10ur Of

canali were

With »arxl mc Wilh xlomng

tivc for middle ear anomalies, Almost all ( 1 3/14, 93%) of

the subjects without ossicles had a flat conductive loss.
whereas those with ankyloscd or hypoplastic ossicles
appear to be equally affected with either a flat (1.302, 59%)
or sloping (9/22, 41
hearing ioss.

DISCUSSION

Our study is the first to report detailed CT result.s of

petrous bone and paired audiologic CT assessments
performed on a large scrics of pediatric paticnts with
Treacher Collins syn-drome. T his series confirms some of
the observations aiready made about the ear anomalies that
characterize patients with Treachcr Collins. Our findings of
largely atretic (54%) and stenotic (3
1 %) extemal auditory canals in the paticnls in
this series agrce with those reported by others (Hutchinson
et al„ 1977: Caldarelli et
1980; Phelps et al., 198 1; Marsh et
al., 1986). Thc almost universal abnormal middle ear
architec-ture, reprcsented by hypoplastic cavities and
hypoplastic, ankylosed, or absent auditory ossicles
reported by othcrs, is also a dominant feature in this scries
of patients. fie ossicles that wcrc present, both the malieus
and the incus, tended to be fused to the lateral or medial
wall of the tympanic recess. However, since the stapes is
the smallest of the ossicle bones and is not regularly seen
on CT examinations. we were not able to comment on the
occurrcnce of a distinct separation of the stapcs from the
malleus/incus complex reponed by others (Poswillo, 1975;
Phelps et al., 1981).
Malformaüons of the outer and middle ear in our patients
with Treacher Collins, unlike those reponed by Marsh et al.
(1986) in thcir CT studies of facial bones, were largely
symmetric. ñe symmetric nature of the car deformities is
one
of the features that distinguishes paticnts with this
syndrome from those with hemifacial microsomia (Phelps et
al., 1983). 'The two groups also appear to diffcr in tlw
relationship between their outer and middle ear findings: we
did not find the parallel between the severity of the outer
1 02 Cleft Joumal. January 1993. Vol. 30 No. I

the observation of Hutchinson et al. ( 1977) that if an external the middle ear in patients with Treacher Collins who have
auditory meatus is present, the middle ear cavity is either ossicles can be expected to result in significant gains in
nonnal or only slightly deformed. In our series. a normal hearing: Teunissen and Cremers (1991 ) reported a 24-dB
extemal auditory meatus was more often associated with an gain in hearing when they performed stapedectomies in two
abnorr•na.l than a normal middle ear canal. Since external pa-ticnts with Trcachcr Collins. The 34-dB residual hearing
canals and middle ear cavities derive from different regions loss these patients experienced, howcvcr, suggcsts that even
of the first branchial arch—the external auditory canal from if their ossicles were mobilized, their remaining ear dysmor-
the first branchial groovc and the middle car cavity from the phologies would result in significant hearing loss and they
first pharyngeal pouch (Converse et al„ 1979)—growth dis- would Still havc to depend on some form of amplification. A
turbances in one but not the Other are possiblc. However, a second study (Jahrsdoerfer et al., 1989) involving a larger
process of embryonic differentiation that results in mal- group (9) of these patients undergoing surgcry for hearing
fomed outer and middle ears in some and only malformed rehabilitation, confirms the generally unsuccessful attempts
middle ears in Other patients with Treacher Collins suggests to improvc long tenn hcaring.
a complex pattem of etiology.
A consistent finding in our group was the absence of inner Rehabilitative Considerations
ear abnormalities. which is not considered to be a feature in
Treacher Collins patients. Occurrences of outer and middle The bone-conduction hearing aid has been the usual type of
but not inner ear malformations are expected, sincc inner car amplification used for these patients. fie traditional unit
structures derive from different embryonic tissues, and there- consists of a spring•loaded headband, bone oscillator. cord.
fore develop indcpcndcntly (Nader, 1971). "Ihe finding of and hearing aid (Fig. 5). However, in our experience, the use
essentially normal inner ears in our patients, including the of thcse aids has bcen associated with skull indentations and
three with sensorineural hearing loss is not necessarily at headaches. Implantable bone conduction units developed by
odds with their loss, since minor nerve cell damage would not Xomcd havc bccomc available and although they are smaller
be detected by CT scan. However, our estimate of and aesthetically more pleasing than the traditional unit, they
sensorineural hearing loss is lower than that reported by currently have many limitations for the atretic patient, par-
others (4/7 subjects, Femandez et al., 1964; 4/30 ears, ticularly the pcdiatric onc.
Hutchinson et al., 1977). 'Ihe cause of any sensorineural loss, For the past 15 years at The Hospital for Sick Children, we
whether congenital or acquired, may be difficult to asccnain. have been using a moditication of the traditional units, T his
Hearing loss and ear dysmorphology in patients with modified unit consists of a high•powered hearing aid, an
Treacher Collins have been reported by severa} authors I I -inch detachable three-prong cord, a bone oscillator, and
(Stovin et al., 1960; Femandcz et al., 1964', Hutchinson et al., double-sided tape (Fig. 6). A removable jack mounted on the side
1977). Only two of these (Stovin et al., 1960', Fernandez et al., of the hearing aid allows the cord to be replaced without the
1964) reportcd paircd hearing loss in studies with small entire instrument having to be sent for repair. Also, the oscillator
sample sizes: their results. including those for asymmetrical is attached to the skull with a double•backed adhe• sive pad that
hearing ioss. generally parallcled ours. ñe asymmetrical eliminates the need for a headband. The unit is cosmctically more
nature of hearing loss rather than anatomy is more likely to pleasing than the traditional one, exens less pressure on the
reflect finer gradations of hearing loss. Configuration of mastoid, and can be used with classroom
hearing loss could bc asscsscd from the reports of only one
study (Femandez et a)., 1964); reverse sloping hearing loss
was also noted in that series of patients. 'Ihe occurrence of a
reverse sloping loss in an essentially conductive disorder is
unusual. "Ihe association of flat hearing loss with atretic
canals and missing ossicles observed in the patients in this
study is more characteristic of a conductive hearing disorder.
observation that reverse sloping loss appears to be
asso-ciated with canal stenosis suggests that pcrhaps
variable stenosis over the cana.l length may be a factor.
Although some of the hearing loss in these study patients is
atüibutable to extemal auditory canal stenosis or atresia, most of
their loss, on average 44 dB, is attributable to their middle ear
malformations. Similar degrees of hearing loss were found to be
associated with hypoplastic middle ear cavities and ankylotic or
miss ing ossicles. Ankylosed or nonfunction-ing ossicles appear
to limit conduction to the same extent that tl*Y would if they were FIGURE S Traditional bone conduction abd with headband and non.
absent. Attempted reconstmction of detachable cord.
 Pron ale, HEARNG LOSS IN TREACHER COLLINS 103

CALDARELLI DD. HUTCHINSON JG JR. PRUZANSKY S, VALVA.SSOR[ GE.

A of microtia and temporal bone anomalies in hemifacial mi-
crosomia and mandibulofacial dysostosis. Cien Palate J 1980;
1 7: 103-1 10.
COLL'NS ET. Cases with symmetrical congenital notches in the outer pan of
each lower lid and defective develcvment of malar boncs. Tr Ophth Sol
Kingdcm 1900: 20:190-192.
CONVERSE JM, MCCARTHY JO, COCCARO PJ. WOOD-SMITH D.
Clinical aspects ofcranioEal microsomia. 'n: Converse JM, McCanhy
JG. Wood-Smith D. eds. Symposium on diagnosis and treatment of
craniofacial anomalies. St Louis: CV Mosby, 1979: 461—475.
FERNANDEZ AO, RONIS ML. The
syndrome. Arch Otolaryn-
gol 1964; 80: 505-520.
FRANCESCHErn A, KLEIN D. The mandibulo-facial dysostosis: a new
heredi-tary syn&ome. Acta Ophthalmol 1949; 27:143—224.
G(RLEN W. COHEN MM. LEVIN LS. Syndromes of the head and neck.
New York: Oxford University Press. 1990:
l.
FIGURE 6 Modlned bone conduction aid consisting of high-powered HERBERTS G. Otological observations on the "Treacher Collins
syndtorne." Acta Otolaryngol 1962: .54:457-465.
aid, an IL-inch detachable three.prong cord and a bone oscillator.
HERUNG SW, ROWUATT UF, PRUZANSKY S. Anatomical abnormalities in
mandibulofacial dysostosis. Am J Med Genet 1979: 3:225—259.
HOLBOROW CA. Deafness and the Treacher Collins syndrome. J
Laryng(i 1961; 75:978-984.
amplification systems. [t does, however, require a cord that is HUTCHINSON JC JR. CALDARELLI DD, VALVASSORI GE, PRUZANSKY S.
subÊct to breakage, may cause irritation because of the tape, PARUS PH. The otologic manifestations of mu'dibulofacial dysostosis.
and does not amplify high frequencies as well as the implant- Truls Am Acad Ophlhalmol Otolaryngol 1977; 84: 520-529.
JAHRSDOERFE.R RA. AGUILAR EA, YÊAXLEY JW. COLE RR. Treacher Collins
able units. Patients and parents have expressed a preference
syndrome: an otologic challenge. Ann Otol Rhjnol Laryngol 1989; 98;
for the modified units over the traditional and implantable
units. Ihese modificd units have proven to be a viable alter- MAFEE MF, VALVASSOPJ GE. Radiology of the craniofacial anomalies.
Otoluyngol Clin North Am 1981; 14:939—988.
nate for parents who are unwilling to consent to an implant-
MARAN AGD. The Treacher Collins syndrome, J Laryngol 1964; 78:
able bone-conduction unit for their child.
MARSH JL, CELIN
CONCLUSION VANNIER MW, GADO M. The skeletal anatomy of
mandibulofacial dysostosis (Treacher Collins syndrome). Plast
Reconstr surg 1986; 78:40-468.
Symmetric outer and middle ear malfon•nations wer char- NADER GT. Congcnital aural atresia: anatomy and surgical managemen(.
acteristic of the patients with Treacher Collins syndrome in Birlh Defects: Original Article Series: VII. 1971; 33—51.
PIE-ps PD, LLOYD GAS. Poswnxo DE. The ear deformities in craniofacial
tlis study. Middle ear abnormalities (i.e., hypoplastic or
microsomia and oculo-auriculo-veflebral dyspiasia. J Laryngol Otol
missing cavities and ossicles) were an almost universal find- L 983;
ing. The majority of patients had a unilateral or bilateral 97:995-1005.
PH?LPS PD, POSWILLO D, LLOYD GA. The car deformities in mandibulofacial
moderate or greater conductive hearing loss with a flat or dysostosis (Trucher Collins syndrome). Clin Otolaryngol 1981; 6:15—28.
reverse sloping configuration. Most of thc loss in these pa- POSWILLO D, The pathogenesis of the Treacher Collins syndrome (mandibu.
tients was attributable to their malformed middle ears. The lofacial dysostosis). Br J Oral Surg 1975; 13:1—26.
ROGERS BO. Berr-y-Treacher Collins syn&omc: a review of 200 cases.
use of modified bone conduction aids has improved the (Mandibulo-facial dysostosis: Franccschetti-Zwahleen-Klein
management of hearing loss in these children. syodromes.) BrJ Plast surg 1964; 17:0-137.
ROGERS BO. Mandibulofacial dysostosis: Treacher Collins syrdrome. In:
Convese JM. McCarthy JG. cds. Symposium on
Acknowledgments. This paper was prepared with the assistance of cal and treatment
Publications, The Hospital for Sick Chitdren. Toronto, Ontario. of craniofacial anomalies. St. Louis: CV Mosby, 1979:423—432.
SANDO l, HEMENWAY WC, MORGAN WR. Histopathology of the temporal
bones in mandibulofacial dysostosis (Treacher-Collins syndrome). Trans
REFERENCES Am Acad Ophthalmol Otolaryngol 1968; 72: 913—924.
STOVIN JJ. LYON JA JR, CLEMMENS RL. Mandibulofacial dysostosis.
BERRY GA. Note on congemtal defect (coloboma) of lower lid. Radiol-ogy 190, 74:225-231.
Ophahalmic Hosp Reports 1889; 12:255—.357. TECNISSEN B, CREMERS CWRJ. Surgery for congenital stapcs
BEHRENTS RG, MCNAMARA JA, AVERY JK. Prenatal mandibolofacial ankylosis with an associated congenital ossicular chain anomaly. Int J
dysos-tosis (Treacher Collins syndrome). Cleft Palate J 1977; 14:13-34. Pediatr laryngol 1991; 21:217 -226.