International Journal of Pediatric Otorhinolaryngology 122 (2019) 138–140

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International Journal of Pediatric Otorhinolaryngology

journal homepage: www.elsevier.com/locate/ijporl

Case Report

Association of bifid epiglottis and laryngeal web with Bardet-Biedl T

syndrome: A case report
Marc-Antoine Poulina,∗, Rachel Laframboiseb, Marie-Julie Blouinc
a
Faculty of Medecine, Laval University, 1050 Avenue de la Médecine, Quebec City, QC, G1V 0A6, Canada
b
Division of Medical Genetics, Centre Hospitalier Universitaire de Quebec, Quebec City, QC, Canada
c
Department of Otolaryngology - Head and Neck Surgery, CHU de Québec- Centre Hospitalier Universitaire de Québec, Quebec City, QC, Canada

A R T I C LE I N FO A B S T R A C T

Keywords: Bardet-Biedl syndrome (BBS) is a rare autosomal-recessive disease characterized by rod-cone dystrophy, obesity,
Bardet-Biedl syndrome postaxial polydactyly, cognitive impairment, hypogonadism and renal abnormalities. Bifid epiglottis and ante-
Bifid epiglottis rior laryngeal web are rare congenital anomalies and are often constituent of polymalformation syndromes. We
Laryngeal web report a case of a 9-month-old patient initially referred in otolaryngology (ENT) for dysphonia and recurrent
Ciliopathy
respiratory infections. Physical exam and fiberoptic nasopharyngolaryngoscopy showed bifid epiglottis and
laryngeal web associated with BBS. Those laryngeals anomalies may be underdiagnosed in BBS and this case
supports the importance of upper airway evaluation by an ENT team, especially with respiratory symptoms or
dysphagia.

1. Introduction 1.1. Case report

Bardet-Biedl syndrome is a rare autosomal recessive ciliopathic
disorder leading to primary cilia dysfunction. The prevalence in North
America is estimated at 1:160,000, but higher prevalence has been
reported in Newfoundland and Kuwait (1:18,000 and 1:13,500 re-
spectively) due to high rate of consanguineous marriages [1]. There is a
considerable variability in BBS phenotype, but main features of this
syndrome consist of obesity, postaxial polydactyly, rod-cone dystrophy,
hypogonadism, cognitive impairment and renal abnormalities. In BBS,
polydactyly is common but remains a non-specific sign, while rod-cone
dystrophy frequently leads to a BBS investigation [2]. To date, 20 dif-
ferent mutations in genes have been described. The disease-causing
gene is identified in 80% of cases. BBS1 and BBS10 appear to be more
frequently found (20–25% each) [3].
Congenital laryngeal web (LW) is an upper airway malformation
resulting from incomplete recanalization of the primitive larynx. It re-
presents less than 5% of larynx congenital anomalies [4]. Bifid epi-
glottis is a rare congenital anomaly defined by midline-cleft that ex-
tends at least 2/3 of the epiglottis. The prevalence of upper airway
abnormalities in BBS remains unknown, but laryngeal webs and bifid
epiglottis have been reported. However, there is no report of a patient
with both of these anomalies.
A 9-month-old white male was referred to otolaryngology depart-
ment for dysphonia and recurrent respiratory infections. He was born at
39 weeks by caesarean section because of decelerations during labour.
He weighed 3,23 Kg and his length was 54cm. During pregnancy, the
mother was taking levothyroxine for hypothyroidism. At the 28 weeks
ultrasound, a polymalformative syndrome was suspected due to hy-
drocephaly and hydronephrosis. An amniocentesis was performed and
results were normal. A bilateral ventriculomegaly was observed by
cerebral MRI at 32 weeks of gestation. A bilateral postaxial polydactyly
of the feet was noted at birth (Figs. 1–2). The family history revealed no
malformation disorder. Both parents appeared phenotypically normal
and non-consanguineous. During his first month, the patient experi-
enced several respiratory infections, dysphagia and gastro-oesophageal
reflux.
At the initial ENT visit, fiberoptic nasopharyngolaryngoscopy
(NPLS) revealed anterior laryngeal web and arytenoid inflammation
with normal vocal fold movement. Bifid epiglottis has not been initially
observed because of poor collaboration of the patient, but subsequent
NPLS showed a complete bifid epiglottis (Fig. 3).
A multidisciplinary evaluation at 10 months including medical ge-
netic exposed multiple anomalies: developmental delay, axial hypo-
tonia, obesity (> 99,9 centile), left eye esotropia, nystagmus,

∗
Corresponding author.
E-mail addresses: marc-antoine.poulin.3@ulaval.ca (M.-A. Poulin), rachel.laframboise@crchudequebec.ulaval.ca (R. Laframboise),
marie-julie.blouin.1@ulaval.ca (M.-J. Blouin).

https://doi.org/10.1016/j.ijporl.2019.04.019
Received 7 March 2019; Received in revised form 13 April 2019; Accepted 13 April 2019
Available online 17 April 2019
0165-5876/ © 2019 Elsevier B.V. All rights reserved.
M.-A. Poulin, et al.
Fig. 1. Polydactyly of the left foot.
Fig. 2. Polydactyly of the right foot.
micropenis, diaphragmatic eventration and bilateral hydronephrosis.
Bardet-Biedl syndrome was confirmed by gene testing which revealed a
homozygous BBS10 mutation (c.909_912del). On follow-up exam five
months later, endocrinologic evaluation confirmed hypogonadotropic
hypogonadism. Videofluoroscopic swallowing exam (VFSE) showed
passive flow at the vallecula with epiglottis tilt delay and sign of tra-
cheal aspiration. Audiologic tests and nocturnal oximetry were normal.
Decision of conservative treatment for patient's laryngeal web was es-
tablished considering a potential exacerbation of his tracheal aspiration
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International Journal of Pediatric Otorhinolaryngology 122 (2019) 138–140
Fig. 3. Endoscopic view of the larynx showing anterior laryngeal web and bifid
epiglottis.
with surgery. At one-year follow-up, a significant improvement of
dysphagia with speech-language pathologist treatments was observed.
2. Discussion
Bardet-Biedl syndrome is a rare anomaly characterized by rod-cone
dystrophy, obesity, postaxial polydactyly, cognitive impairment, hy-
pogonadism and renal abnormalities. The otolaryngologic features most
commonly found are speech and language disorders, sensorineural
hearing loss and orodental abnormalities [5].
Bifid epiglottis is usually a syndromic constituent rather than an
isolated anomaly. Although epiglottis embryology remains con-
troversial, the strong association of polydactyly with epiglottis ab-
normalities may be explained by their synchronous development during
embryogenesis6. Even if epiglottis clefts are frequently associated with
Pallister-Hall Syndrome (59%), it occasionally occurs with BBS. The
review of literature reports more than 30 cases of bifid epiglottis, but
only 4 of them where associated with BBS [6,7]. Common presentation
of this laryngeal abnormality in BBS includes clear fluid dysphagia,
stridor and recurrent respiratory infections. However, Ondrey et al.
reported in their study of Pallister-Hall syndrome that bifid epiglottis
could be completely asymptomatic [8]. Diagnostic is usually an endo-
scopic finding. The management of bifid epiglottis depends on symp-
toms. Conservative treatment is frequently preferred for asymptomatic
patients or those with minor aspiration symptoms [5]. Surgical inter-
vention such as trascheostomy, laser treatment, suturing of the epi-
glottis or its amputation are usually reserved for patients with airway
symptoms [9]. In Stevens et al. study, 17/24 patients with bifid epi-
glottis described airways symptoms and eight of them underwent sur-
gery [10]. From all patients who survived and were followed, all but
one improved in either treated or untreated groups.
Anterior laryngeal web is an infrequent laryngeal malformation that
has a strong genetic association with 22q11 microdeletion. This results
from failure of laryngeal lumen to recanalize during first trimester [11].
The literature review shows only one reported case of a 5 year old fe-
male child with an anterior laryngeal web associated with Bardet-Biedl
M.-A. Poulin, et al.
syndrome [12]. She was initially referred to ENT unit for respiratory
distress. Webs are often located in anterior glottis and the variation in
thickness and size explains the great spectrum of symptoms. Clinical
presentation ranges from stridor, hoarseness or dysphonia to acute re-
spiratory distress requiring immediate intubation at birth. Like bifid
epiglottis, diagnostic is usually an endoscopic finding. Conservative
treatment is frequently preferred over surgery. If surgical management
is required, endoscopic or open surgery may be performed.
Few cases reported bifid epiglottis or laryngeal webs related to BBS.
However, none of them described these two abnormalities for the same
patient. Surgical treatment of either these two pathologies may have an
impact on the symptomatology of the other. It would then be preferable
to address these two abnormalities during the same intervention or opt
for conservative treatment for both of them. Nonetheless, clinician
should keep in mind that airway management is the priority. Thus, a
laryngeal web causing symptoms other than dysphonia should be ad-
dress surgically first regardless of the possible increase of aspiration.
Those otolaryngologic features may be part of the wide phenotypal
range of BBS. In this case, the patient with BBS10 mutation presented
dysphonia, dysphagia and recurrent upper respiratory infections. All
these symptoms can be explained by either one of those laryngeal
anomalies. According to the patient history and physical exam, a vi-
deofluoroscopic swallowing exam should be considered during in-
vestigation. In addition, this case supports the importance of a complete
evaluation in otolaryngology of patients with BBS including an endo-
scopic visualisation of the laryngeal structures.
In conclusion, this case reports a Bardet-Biedl syndrome with bifid
epiglottis and laryngeal web. To date, this remains the only case of a
patient with these two anomalies. Prevalence of bifid epiglottis in this
rare syndrome may be underestimated and further studies are required
to confirm this correlation. However, clinician should keep a high index
of suspicion, especially if the patient has airway symptoms.
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International Journal of Pediatric Otorhinolaryngology 122 (2019) 138–140
Discloses
The authors have no funding, financial relationships, or conflicts of
interest to disclose.
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