J Periodontol • June 2007
Case Report
Treatment of Gingival Overgrowth in a Child With
Bardet-Biedl Syndrome
xalves,† Áurea Simone Barrôso,* Eduardo Jorge
Rayen Millanao Drugowick,* Lorena Da Rós Gonc
†
Feres-Filho, and Lucianne Cople Maia*
Background: Bardet-Biedl syndrome (BBS) is a
rare, heterogeneous, autosomal recessive condition,
primarily characterized by polydactyly, obesity, men-
tal retardation, hypogonadism, retinopathy, and renal
failure. Dental anomalies, regarded as secondary man-
ifestations, include hypodontia, microdontia, short
roots, and deep palate. Few reports in the literature
have described the oral manifestations of BBS. This
article reports a case of BBS in a boy who presented
some typical oral manifestations added to a general-
ized gingival overgrowth, an anomaly that had not
been reported previously in patients with this syn-
drome.
Methods: A 12-year-old white male presented with
a diagnosis of BBS and chief complaint of gingival en-
largement in the anterior segment of both arcades.
The treatment plan included surgical removal of the
overgrown gingiva followed by orthodontic therapy.
The excised tissues were submitted to histologic anal-
ysis.
Results: There was no sign of recurrence 1 year
after gingivectomy. Histopathology revealed a dense
connective tissue with a mild inflammatory infiltrate,
irregularly arranged fiber bundles, and epithelial
acanthosis, which is characteristic of gingival over-
growth.
Conclusions: The gingival overgrowth was treated
successfully by gingivectomy. The periodontal sur-
gery minimized the functional, social, and emotional
consequences of the oral manifestation associated
with the syndrome. J Periodontol 2007;78:1159-
1163.
KEY WORDS
Bardet-Biedl syndrome; child; gingival overgrowth;
oral manifestations.
* Department of Pediatric Dentistry and Orthodontics, School of Dentistry,
Federal University of Rio de Janeiro, RJ, Brazil.
† Division of Graduate Periodontics, School of Dentistry, Federal University
of Rio de Janeiro.
ardet-Biedl syndrome (BBS)1 is a rare, heter-
B ogeneous, autosomal recessive condition with
11 gene loci mapped.2 Its prevalence ranges
from 1 in 100,000 to 1 in 160,000, although there
are populations in which BBS seems to be more
common as a result of consanguinity.3-6 The phe-
notype of BBS varies among and within families, with
only subtle phenotypic differences related to the
different genes identified.7,8 Alterations of BBS can
be present from the neonatal period, develop in early
childhood or during the patient’s life, and may aggra-
vate with aging.9,10 The primary and secondary fea-
tures of BBS are described in Table 1.11
Diagnosis of BBS requires the presence of at least
four primary or three primary and two secondary clin-
ical features.11 Generally, the prognosis of patients
with BBS is poor. Their survival and quality of life de-
pend on the severity of symptoms, as well as on the
quality of their medical care.12 Dental anomalies have
been considered a secondary feature of BBS and in-
clude high arched palate, small teeth, hypodontia,
and short roots.11,13,14 There are few reports in the liter-
ature describing oral manifestations of this syndrome,
and none of them reported gingival overgrowth. We
report on the treatment of gingival overgrowth and
discuss the oral manifestations of a child with BBS.
CASE REPORT
A 12-year-old boy was referred to the odontopediatric
clinic of the School of Dentistry, Federal University of
Rio de Janeiro, by his pediatrician and speech thera-
pist. The patient presented to the graduate periodon-
tics clinic in April 2005 with the chief complaint of
enlarged gingiva. An informed consent allowing him
to be profiled was obtained from his mother. She
described her son’s social constraint due to his per-
ceived dissatisfaction with his oral appearance. Ac-
cording to her, the patient’s gingiva started growing
out of proportion when he was 4 years old, and it
was interfering with his speech and esthetics. Based
on his clinical characteristics, a geneticist diagnosed
doi: 10.1902/jop.2007.060378
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Gingival Overgrowth and Bardet-Biedl Syndrome Volume 78 • Number 6

Table 1.
Primary and Secondary Features of
Bardet-Biedl Syndrome*

Primary Features Secondary Features

Retinal dystrophy Speech disorder/delay

Polydactyly Strabismus/cataracts/astigmatism
Obesity Brachydactyly/syndactyly

Developmental delay Polyuria/polydipsia

(nephrogenic diabetes insipidus)
Hypogonadism
in males Ataxia/poor coordination/imbalance
Renal anomalies Mild spasticity (especially lower limbs)

Diabetes mellitus
Hypodontia/small roots/high arched
palate/small teeth

Left ventricular hypertrophy/congenital

heart disease
Hepatic fibrosis
* Based on information provided by Beales et al.11

the patient as having BBS at the age of 11 years and 6

months.
At birth, the patient, who is the only child of a cousin
marriage, presented postaxial polydactyly in the hands
and feet and cryptorchidism (both later corrected sur-
gically), bilateral epicanthus, and partial syndactyly
of the thumbs. He had a convulsive crisis with fever
when he was 10 months old, for which his neuropedia-
trician prescribed phenobarbital.‡ The treatment with
this medication was interrupted when he was 4 years
old. When he was 18 months old, neuropsychomotor
retardation was observed, as well as nystagmus in the
left eye and hypoplastic external genitalia. At 10 years
of age, he had a convulsive crisis without fever, at
which time an electroencephalogram showed moder-
ate epileptiform abnormalities; carbamazepine§ was
prescribed. This medication was substituted for phe-
nobarbital after 6 months because it was causing an
increase in the hepatic enzymes. The patient has been
using this drug since that time.
An extraoral examination showed retrognathia, dif-
ficulty in closing the lips tightly, hypotony of the upper
lip, and mouth breathing (Figs. 1 and 2). An intraoral
examination showed a deep palate and generalized
gingival overgrowth in both arcades (Fig. 3). The
gingival overgrowth appeared uniform, without lobu-
lation in the interdental papilla, and was asymptom-
atic, reddish, and with a firm consistency. Other
findings included a severe bacterial plaque index, gin-
givitis, absence of carious lesions, slight fluorosis, and
Figure 1.
Full face showing hypotony of the upper lips.
tooth malpositioning. Periapical radiographies showed
short roots in the posterior teeth and no alveolar bone
loss (Fig. 4). Baseline periodontal parameters are
listed in Table 2.
The dental treatment planned for this patient con-
sisted of gingivectomy followed by periodontal main-
tenance every other month and orthodontic treatment.
Instructions on oral hygiene and advice on a low-
sugar, fiber-rich diet were given to the patient and
his mother, with the recommendation for the mother
to brush her son’s teeth. Because of the patient’s crit-
ical bleeding time (3 minutes) and platelet count
(117,000/ml), his hematologist prescribed an antifi-
brinolytic drug, tranexamic acid,i 1g, 24 hours before
gingival surgery, which was performed quadrant by
quadrant. Each surgical session was carried out,
1 month apart, under local anesthesia and consisted
of an internal bevel gingivectomy to optimize healing
and the postoperative course. The patient was in-
structed to rinse with 0.12% chlorhexidine gluconate
twice a day for 1 week. One year after the surgical
therapy, there had been no signs of recurrence, and
‡ Gardenal, Sanofi-Aventis, São Paulo, SP, Brazil.
§ Tegretol, Novartis Biociências, São Paulo, SP, Brazil.
i Transamin, Nikkho do Brasil, Rio de Janeiro, RJ, Brazil.

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J Periodontol • June 2007
the patient had been referred to an orthodontist. How-
ever, he still showed gingivitis because of irregular
periodontal maintenance, mouth breathing, and diffi-
culty in plaque removal because of visual degradation
associated with the syndrome (Fig. 5).
The excised gingival tissue was collected and pro-
cessed for routine histologic analysis (hematoxylin
and eosin staining). Observations confirmed the gen-
eral appearance of the altered tissue to be comparable
to that described for gingival overgrowth, i.e., dense
connective tissue with a mild mononuclear inflamma-
tory infiltrate, irregularly arranged fiber bundles, and
epithelial acanthosis with elongated rete pegs (Fig. 6).
Figure 2.
Profile view of retrognathia.
Figure 3.
View of the oral cavity presenting generalized gingival overgrowth in both arches.
xalves, Barrôso, Feres-Filho, Maia
Drugowick, Gonc
DISCUSSION
BBS has been regarded as being clinically and genet-
ically heterogeneous;16 therefore, other syndromes
with similar combinations must be ruled out. In the
case reported here, the differential diagnosis included
the syndromes of Laurence-Moon, Prader-Willi,
Alstrom, Cohen, type 2 Biemond, and Carpenter.17
As for the oral manifestations, besides having teeth
with short roots and a deep palate, which are second-
ary characteristics of the syndrome,11,14 the patient
also had gingival overgrowth. There are no reports
in the literature of gingival overgrowth as a manifesta-
tion of the syndrome; only two studies11,13 assessed
the prevalence of the oral manifestations of this syn-
drome. Such studies found a high frequency of hypo-
dontia, microdontia, and short roots; the latter was
present in the case described here.
The controversial aspect of the present case results
from the possible etiology of the gingival overgrowth,
which may occur as part of syndromes, such as gin-
gival fibromatosis with hypertrichosis, gingival fibro-
matosis with distinctive facies, Zimmermann-Laband,
Murray-Puretic-Drescher, Rutherford, Ramon, Cross,
Jones, and Prune-belly, or as a consequence of ther-
apy with anticonvulsant drugs.18,19 The patient’s gin-
gival alteration could have been induced by the use of
phenobarbital or carbamazepine. However, gingival
overgrowth resulting from the use of these drugs is
rare; there is a consensus in the literature that phenyt-
oin is the anticonvulsant drug that is associated most
commonly with this alteration.19 Conversely, this
might be a case of hereditary gingival fibromatosis as-
sociated with the syndrome; according to the patient’s
mother, his gingiva started growing when he was 4
years old after he stopped using the anticonvulsant
drug. Additionally, the anticonvulsant drug therapy
was interrupted for 6 years, during which time the gin-
gival overgrowth became aggravated. However, the
gingival overgrowth most likely was of idiopathic na-
ture, because the patient’s family history showed no
evidence of genetic transmission.
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Figure 4.
Periapical radiographs depict short roots in the posterior teeth and no evidence of alveolar bone loss.

Table 2.
Baseline Periodontal Parameters

Parameters Baseline Value

Probing depth (mm) (mean – SD) 3.53 – 0.97

Clinical attachment loss (mm) 0

Gingival overgrowth* (% sites)
0 14

1 9.8
2 42.1
3 34.1

Visible plaque (% sites) 89

Bleeding on probing (% sites) 47
15
* Based on the classification described by Pernu et al.

Figure 6.
Excised gingival tissue shows dense connective tissue with a mild
mononuclear inflammatory infiltrate (arrowheads), irregularly
arranged fiber bundles (arrows), and epithelial acanthosis with
Figure 5. elongated papillae (stars) (hematoxylin and eosin; original
Anterior maxilla 1 year after gingivectomy. magnification ·40).

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J Periodontol • June 2007
Gingival overgrowth may induce inadequate erup-
tion of the teeth, and, consequently, tooth malposition-
ing, which occurred in the present case.20 Treatment
of overgrowth varies according to the gravity of the
condition. Surgical intervention is necessary when
gingival overgrowth takes great extensions, bringing
esthetic and functional losses to the patient.21 Be-
cause of the severity of the gingival overgrowth in this
case, which impaired the patient’s speech and caused
the mother/patient to complain about esthetic prob-
lems, gingivectomy was the treatment of choice. Gin-
gival overgrowth may recur; however, in this case, it
had not recurred 1 year after surgery. Nonetheless,
persistent gingivitis in the anterior segment of the up-
per jaw warranted strict adherence to a periodontal
maintenance program, particularly for a child with
special health care needs whose treatment plan in-
cluded orthodontic therapy.
The survival and quality of life of patients with BBS
depend on the medical care that they receive.12 It is
necessary for the patient to be followed by a multidis-
ciplinary team formed by physicians (neurologist, ne-
phrologist, ophthalmologist, and endocrinologist), a
speech therapist, a physiotherapist, a psychologist,
and a dentist. The latter must be able to diagnose
the oral manifestations in these patients, and, if nec-
essary, make interventions to minimize the outcomes
of BBS.
CONCLUSIONS
The gingival overgrowth described here in a boy with
BBS was treated successfully by gingivectomy. The
periodontal surgery minimized the functional, social,
and emotional consequences of the oral manifesta-
tion associated with the syndrome.
ACKNOWLEDGMENT
This work was supported in part by the Foundation for
Graduate Education (CAPES), Ministry of Education,
Brazil.
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Correspondence: Dr. Eduardo Jorge Feres-Filho, Rua
Voluntários da Pátria 445/1010, Rio de Janeiro, RJ, 22270-
000, Brazil. Fax: 55-21-2629-3738; e-mail: eduferes@
yahoo.com.br.
Accepted for publication December 20, 2006.
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