The Laryngoscope

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Rhinological and Otological Society Inc,
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Laryngological Association (ALA)

Case Report

Cleft Palate Patient With Conductive Hearing Loss Due to Stapes

Fixation

Ozan Özdemir, MD; Okan Övünç, MD
it, MD

; Özgür Yig

Congenital stapes fixation is characterized by congenital conductive hearing loss that is not progressive. This rare disease may
be accompanied by additional middle ear anomalies. However, the occurrence of congenital stapes fixation with cleft palate
and oligodontia was described by Gorlin et al. in 1973, and no further cases have been reported in the literature. Congenital
stapes fixation was detected after the exploratory tympanotomy operation performed on a 15-year-old male patient admitted
to our clinic with hearing loss, more prominent on the left. The patient also had a previous operation due to cleft lip and had
congenital deficiencies in the upper and lower teeth. We present the second case report in the literature which we think
belongs to this syndrome, which is defined as cleft palate, stapes fixation, and oligodontia syndrome by Gorlin et al.
Key Words: Stapes fixation, cleft palate, oligodontia, stapedectomy.
Laryngoscope, 131:E1279–E1281, 2021

INTRODUCTION the left auricle were observed (Fig. 1). On otomicroscopic

Congenital stapes fixation is a congenital disease
characterized by nonprogressive hearing loss observed
with other middle ear anomalies. This disease, which usu-
ally accompanies first and second branchial cleft anoma-
lies, can sometimes also be seen in cervico-oculo-acoustic,
Pfeiffer, branchio-oto-renal, and Klippel-Feil syndromes.
When we investigated the cleft palate and
oligodontia findings observed in a case we operated on
due to congenital stapes fixation, we found that there had
been a very rare syndrome identified in two patients with
these findings.1 Our study is the second case report in the
literature for cleft palate, stapes fixation, and oligodontia
syndrome in the same patient.
CASE REPORT
A 15-year-old male patient presented to the Istanbul
Training and Research Hospital Otorhinolaryngology
Clinic (Istanbul, Turkey) in December 2019 with hearing
impairment in both ears since birth. In the examination
of the patient, it was observed that the patient had prom-
inent ears. In the postauricular regions, accessory lobules
located superiorly in the right auricle and inferiorly in
From the Ear Nose Throat Department (O.Ö., O.Ö., Ö.Y.), University
of Health Sciences, Istanbul Training and Research Hospital, Istanbul,
Turkey.
Editor’s Note: This Manuscript was accepted for publication on
August 11, 2020.
The authors have no funding, financial relationships, or conflicts of
interest to disclose.
Send correspondence to Okan Övünç, MD, Kasap Ilyas_ Mah, Org.
_
Abdurrahman Nafiz Gürman Cd., 34098 Fatih/Istanbul, Turkey. E-mail:
okanovunc@gmail.com
DOI: 10.1002/lary.29076
examination, the bilateral tympanic membranes were
found to be normal. It was observed that the external ear
canal was partially narrowed and angled superiorly, and
both tympanic membranes were smaller than normal.
The patient had a C-shaped axis deviation in the nasal
dorsum and scar tissue due to the cleft lip operation on
the philtrum. The patient had been operated on three
times: at age 1 for the cleft lip, at age 1.5 for the cleft pal-
ate, and at age 10 for cleft palate revision (Fig. 2). Oral
cavity examination revealed that the patient had few
upper teeth and had received orthodontic treatment
(Fig. 3). No other family members had similar symptoms
or findings.
Audiological evaluation revealed pure-tone average
(PTA) values of 41 dB on the left and 33 dB on the right.
Tympanometry tests resulted in a bilateral type A
tympanogram. On temporal bone computed tomography
(CT), the bilateral tympanic cavities and the mastoid cell
aeration were normal, and the stapes bones on both sides
had monopolar crura (Fig. 4). After a discussion with the
patient and the legal guardians, the decision was made to
perform an exploratory tympanotomy, and the operation
was performed on the left side, which had a worse PTA
value.
During the operation, it was observed that the long
arm of the incus was thinned and partially hypoplastic;
the manibrium was short; there was no stapedius muscle
or its tendon; and a single-legged rudimentary stapes was
present. The base of the stapes was sclerotic; and it was
observed that the stapedial movement was fixed. There
was also dehiscence on the bony canal of the facial nerve
tympanic segment. The fixed stapes was separated from
the incudostapedial joint and removed from the oval win-
dow with its base, and a stapedectomy was performed.

Laryngoscope 131: April 2021 Özdemir et al.: Cleft Palate Patient With Stapes Fixation
E1279

Fig. 1. Prominent ear and accessory lobule.
Fig. 2. Prominent nasal axis deviation (frontal view) and operation-
related scar on philtrum.
Because the malleus was short and the incus was hypo-
plastic, the remaining ossicular chain after stapedectomy
was considered nonfunctional. Therefore, a total ossicular
replacement prosthesis was applied to the base after a
perichondrium graft was laid. Another perichondrium
Laryngoscope 131: April 2021
E1280
graft was placed on the dehiscent facial nerve. At
4 months after the operation, the patient had significant
improvement in the hearing in the left ear, with a PTA
value of 23 dB.
DISCUSSION
Congenital stapes fixation is a rare condition that
differs from juvenile otosclerosis with its nonprogressive
nature and accompaniment by other ossicular and middle
ear anomalies. Congenital ossicular anomalies are also
rare and are observed at one in every 15 thousand
births.2 Although these patients have normal otoscopic
findings, bilateral conductive hearing loss is present.
Audiometry and temporal bone CT findings are often not
sufficient for definitive diagnosis. In our patient, normal
otoscopy, conductive hearing loss in audiometry, and
ossicular anomalies in CT were observed. Whereas these
findings guided us to the diagnosis, an exploratory
tympanotomy was performed to evaluate fixation and
treatment. In the operation, a short manibrium, thinning
in the long arm of the incus, a rudimentary stapes, and
stapes fixation findings were observed. At the same time,
dehiscence in the bony canal of the facial nerve tympanic
segment and partial protrusion of the facial nerve on the
oval window were observed. In a study conducted by An
et al., facial nerve anomalies were observed in 11.2% of
the ears operated on due to congenital stapes fixation.3
Our patient also had other ear anomalies, such as conchal
cartilage hypertrophy, an accessory lobule, and a nar-
rowed and superiorly angled external ear canal.
Surgical treatment for congenital stapes fixation is
controversial due to the risk of sensorineural hearing loss
and the potential for gusher. However, studies have indi-
cated that stapedectomy is an effective method to provide
a significant improvement in hearing in patients,
although the success rate is lower than in juvenile
otosclerosis.4
Whereas congenital stapes fixation is associated with
middle ear anomalies, the only case report of stapes fixa-
tion with cleft palate and oligodontia was published by
Gorlin et al. in 1971. They defined this syndrome after
detecting it in two Swedish sisters to whom it is thought
to have passed through autosomal recessive inheritance.1
No other cases of this defined syndrome have been
reported to date.
Cleft lip and palate can be features of many other
syndromes. The most common of these are Pierre-Robin
syndrome, Stickler syndrome, and 22q11 deletion syn-
drome. These related syndromes should be considered
during the treatment processes of children with cleft
lip/palate. Conductive hearing loss due to otitis media
with effusion is frequently observed in patients with cleft
palate due to the presence of velopharyngeal insuffi-
ciency. For this reason, when conductive hearing loss and
cleft lip are observed together, the first thing that usually
comes to mind is otitis media and not stapes fixation.
Dental agenesis is frequently present in patients
with cleft palate, and hypodontia, oligodontia, or ana-
dontia may be observed.5 Our patient had oligodontia and
was receiving orthodontic treatment.
Özdemir et al.: Cleft Palate Patient With Stapes Fixation
Fig. 3. Left: the appearance of oligodontia in the upper teeth. Right: bony defect in the nasal base due to cleft palate.
Fig. 4. Intraoperative photograph of rudimentary stapes. *Footplate; **neck of stapes; − head of stapes.
The carpal and tarsal bone fusion and toe shortness
reported in the case report of Gorlin et al.1 did not exist
in our patient. Also, the auricular anomalies in our
patient were not present in the cases of Gorlin et al. After
further reports of similar cases, it will be possible to
determine the common characteristics of patients with
this syndrome.
Our study, which is the second publication in the lit-
erature on cleft palate, stapes fixation, and oligodontia
syndrome, is important because it draws attention to this
rare syndrome. It is possible that patients with congenital
stapes fixation may be overlooked, especially in patients
with cleft palate with conductive hearing loss due to otitis
media with effusion. For this reason, the causes of con-
ductive hearing loss should be investigated in detail in
patients with cleft palate.
Laryngoscope 131: April 2021
ACKNOWLEDGMENT
The study was approved by the institutional review board
of ethics.
BIBLIOGRAPHY
1. Gorlin RJ, Schlorf RA, Paparella MM. Cleft palate, stapes fixation and
oligodontia-a new autosomal recessively inherited syndrome. Birth Defects
Orig Artic Ser 1971;7:87–88.
2. Farrior JB. Surgical management of congenital conductive deafness. South
Med J 1987;80:450–453.
3. An YS, Lee JH, Lee KS. Anomalous facial nerve in congenital stapes fixation.
Otol Neurotol 2014;35:662–666.
4. Massey BL, Hillman TA, Shelton C. Stapedectomy in congenital stapes fixa-
tion: are hearing outcomes poorer? Otolaryngol Head Neck Surg 2006;134:
816–818.
5. Bartzela TN, Carels CEL, Bronkhorst EM, Rønning E, Rizell S, Kuijpers-
Jagtman AM. Tooth agenesis patterns in bilateral cleft lip and palate.
Eur J Oral Sci 2010;118:47–52.
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