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PEDODONTICS
NON SYNDROMIC FAMILIAL HYPODONTIA - A CASE SERIES
Case Report Halah Binladen1a*, Amal Mahmoud1b, Neeta Chandwani1c, Manal El-Halabi1d
1
Department of Pediatric Dentistry, MBRU Hamdan Bin Mohammed College of Dental Medicine, The Mohammed Bin Rashid University of Medicine and
Healthcare Sciences (MBRU), Dubai, UAE

a
DDS, MSc, Specialist Pediatric Dentist
b
DDS, MSc, Specialist Pediatric Dentist
c
DDS, MScD, Specialist Pediatric Dentist, Visiting Faculty
d
DDS, MScD, Associate Professor, Chair, Program Director

ABSTRACT DOI: 10.25241/stomaeduj.2018.5(1).art.6
OPEN ACCESS This is an
Aim: The aim of this case report is to discuss the features of non-syndromic familial Open Access article under the CC
hypodontia, which was noted in three siblings who had an unremarkable medical history. BY-NC 4.0 license.

Summary: Congenital absence of teeth is a common dental anomaly referring to teeth Peer-Reviewed Article

that fail to erupt in the oral cavity and remain invisible in radiographs. Congenital tooth Citation: Binladen H, Mahmoud A,
agenesis is defined by the number of missing teeth, excluding the third molars; hypodontia Chandwani N, El-Halabi M. Non syndromic
familial hypodontia - a case series. Stoma
refers to the absence of less than six teeth, while oligodontia is the absence of six or more Edu J. 2018;5(1):52-57.
teeth. Academic Editor: Rodica Luca, DDS,
Tooth agenesis can occur as part of a genetic syndrome such as the cleft lip and palate, PhD, Professor, “Carol Davila” University
of Medicine and Pharmacy Bucharest,
ectodermal dysplasia and Trisomy 21 (syndromic hypodontia) or an isolated trait Bucharest, Romania
(nonsyndromic hypodontia). Non-syndromic hypodontia is the most common form and
Received: January 31, 2018
can be familial or sporadic. The most supported etiological theory suggests that tooth Revised: February 26, 2018
agenesis may be due to a combination of genetic and environmental factors, which lead to Acccepted: March 20, 2018
Published: March 26, 2018
disturbances in the tooth germ during the initial formation stages.
This case series reports bilateral agenesis of the maxillary canines in siblings, which is *Corresponding author: Dr. Halah
Binladen, DDS, MSc, Specialist Pediatric
quite rare in occurrence. The management of these anomalies involves a multidisciplinary Dentist, Department of Pediatric Dentistry,
approach in order to restore esthetics and function. An early diagnosis can lead to effective MBRU Hamdan Bin Mohammed College of
Dental Medicine, The Mohammed Bin Rashid
treatment planning and satisfactory results. University of Medicine and Healthcare Sci-
ences (MBRU), PO Box 71696, Dubai, UAE, Tel:
Key learning points: The clinical manifestations as well as the short and long term 800-MBRU (6278), Direct: +97143838906,
management of this condition are discussed. e-mail: H_laden24@hotmail.com

Keywords: hypodontia, congenital, nonsyndromic, management. Copyright: © 2018 the Editorial Council
for the Stomatology Edu Journal.

1. Introduction these genes, mainly MSX1, PAX9 and AXIN1 may result
Hypodontia is a very common dental anomaly that in tooth agenesis, although the exact mechanism is
occurs mainly in the induction and proliferation stage of not known [6-9]. The environmental factors implicated
tooth development, leading to tooth agenesis, posing a in tooth agenesis include trauma to the dental region,
significant clinical problem. chemotherapy or radiotherapy and maternal infections
It can occur in both the primary and permanent during tooth development [6,7].
dentition and its classification is based on the number of Prevalence of hypodontia in the permanent dentition,
missing teeth, excluding the third molars [1]. Anodontia excluding the third molars, is about 4.5 – 7.4% in
is defined as the complete absence of teeth either in one Caucasians; while including the third molars is about
or both arches [1,2]. Oligodontia is a severe and rare form 9-30% [2,4].
of tooth agenesis which is defined as the absence of six A 2016 systematic review and meta-analysis found
or more teeth, while the congenital absence of less than that there was no difference between the prevalence
six teeth is referred to as hypodontia. of hypodontia among the different ethnic groups with
Hypodontia can be inherited as an isolated trait or is each affected Negroid, Mongoloid, and Caucasian having
usually associated with several syndromes such as 1.871, 1.900, and 1.889 missing teeth respectively [10].
ectodermal dysplasia, Down Syndrome and cleft lip and The most frequently affected teeth are the mandibular
palate [2,3]. second premolar and the maxillary lateral incisor [4].
Non-syndromic hypodontia is more common, with The congenital absence of canines in the permanent
varying numbers of teeth that can be involved; however, dentition is reportedly a very rare occurrence with
the incisor-premolar type predominates [3]. prevalence rates varying from 0.06% to 0.18% [11].
Various studies report that hypodontia is more commonly The present cases report familial non-syndromic
seen in the maxillary arch and the permanent dentition hypodontia in three siblings, of which two cases show
is much more affected than the primary dentition [3,4]. bilateral maxillary canine agenesis.
A review of the literature indicates that the etiology of
hypodontia is multifactorial and has been reported to be
due to genetic as well as environmental factors [5]. 2. Case report
Recent studies indicate the role of the genes in the 2.1. Case 1
tooth morphogenesis from the initiation, patterning A 7.9-year-old girl (ZA) presented with her father at the
and histogenesis of dental tissues. Mutations in some of department of pediatric dentistry for an initial dental

52 Stoma Edu J. 2018;5(1): 52-57 http://www.stomaeduj.com
NON SYNDROMIC FAMILIAL HYPODONTIA -
A CASE SERIES

Case Report
Figure 1. Intraoral frontal view, ZA. Figure 2. Upper occlusal view, ZA.

Figure 3. Lower occlusal view, ZA. Figure 4. Right buccal view, ZA.

Figure 5. Left buccal view, ZA. Figure 6. Right bitewing, ZA.

Figure 7. Left bitewing, ZA. Figure 8. Orthopantomogram, ZA.

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NON SYNDROMIC FAMILIAL HYPODONTIA -
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Case Report

Figure 9. Orthopantomogram, father. Figure 10. Orthopantomogram, AA.
visit with no chief complaints. Her medical history
was unremarkable with no systemic conditions or
syndromes.
Dental History: An extra-oral examination revealed a
convex profile with an increased over-jet (5 mm) and
the patient's skin and hair were found to be normal in
texture and appearance. The intraoral examination
showed the child to be in the mixed dentition stage
(Fig. 1-5). Multiple teeth, namely 55, 54, 53, 63, 64, 65, 73,
84 (FDI Notation system) had proximal carious lesions Figure 11. Intraoral frontal view post-op, AA.
which were detected clinically and confirmed by the
initial bitewing radiographs (Fig. 6, 7). Tooth 74 was
noted to be non-restorable.
A comprehensive dental treatment plan was formulated
and discussed with the parent, which included
restoration of the carious teeth with composite
restorations and extraction of tooth 74. The patient
however did not return back for any treatment for almost
one year, despite repeated attempts to contact them.
Upon the child’s return for treatment at 9 years of
age, a new dental assessment was conducted which
included an orthodontic consultation due to the Class II
malocclusion with the increased over-jet.
A routine panoramic radiograph was thus taken which
revealed agenesis of teeth 13, 12, 22, 23 and 32 (Fig. 8).
The corresponding primary teeth (53, 52, 62, 63) were
retained with no radiographic evidence of tooth Figure 12. Upper occlusal view post-op, AA.
resorption or mobility. Tooth 72 had exfoliated and teeth
31, 41 and 42 were present.
Based on the history and clinical findings, a diagnosis of
non-syndromic hypodontia was made.
A comprehensive treatment plan using a multidisciplinary
approach was formulated in order to restore both
esthetics and function and discussed with the father.
The short-term plan included restoration of the carious
teeth and maintaining the retained primary teeth (53, 52,
62 63) until they showed clinical or radiographic signs of
exfoliation on routine follow up appointments. The long
term orthodontic plan would then be initiated which
would involve extraction of all the retained primary
teeth, moving the maxillary premolar teeth (14 and 24)
into the respective canine spaces and reshaping them to
resemble the maxillary canines (13 and 23). Figure 13. Lower occlusal view post-op, AA.
The space for the missing maxillary lateral teeth would be
preserved. Once orthodontic treatment was completed, father agreed to a panoramic radiographic evaluation
a resin retained bridge would be fabricated to replace 12 of himself and was advised to bring in the remaining
and 22 as a temporary measure until implants could be children for a thorough dental evaluation to detect
placed once the child turns 18 years of age. familial hypodontia.
Due to the diagnosis of the hypodontia, a detailed The father’s radiograph showed spacing in the upper
medical history was obtained from the parent which arch, no congenitally missing teeth and a history of
revealed a non-consanguineous marriage, with no extraction of tooth 26 (Fig. 9).
history of genetic conditions in both parents. The The two older children (Cases 2 and 3) however had
child was the third oldest among four children. The congenitally missing teeth. The youngest child was 2

54 Stoma Edu J. 2018;5(1): 52-57 http://www.stomaeduj.com
NON SYNDROMIC FAMILIAL HYPODONTIA -
A CASE SERIES

years of age and hence no radiographic evaluation was

Case Report
conducted.
2.2. Case 2
AA was 10 years of age with an unremarkable medical
history. The panoramic radiograph revealed oligodontia
with teeth 13, 12 22, 23, 45, and 55 congenitally missing
(Fig. 10).
AA presented with a Class II malocclusion and a 7mm
anterior overjet (Fig. 11, 12, 13). A similar short term
and long term orthodontic plan was devised to correct Figure 14. Orthopantomogram, OA.
the missing teeth, where in teeth 14 and 24 would be prevalence values at 4.4%. Most individuals had only
positioned in the place of the permanent canines and one or two teeth missing [3].
the space for the lateral incisors, 12 and 22, would be Mandibular second premolars are the most commonly
preserved for future implants, once the child turns 18 affected and account for 29.9% of all congenitally
years of age. missing teeth, followed by maxillary lateral incisors
Teeth 75 and 85 would also be extracted and the space (24.3%). Maxillary canines on the other hand made up
would be closed orthodontically. only 2.5% of all congenitally missing teeth [3].
Our case series showed three siblings with variable
2.3. Case 3 expressions of hypodontia. Case 1 and 2had congenitally
OA was 12 years of age with an unremarkable medical missing maxillary canines in addition to maxillary lateral
history and presented with tooth 45 congenitally incisors. The occurrence of bilateral congenitally missing
missing and peg shaped upper lateral incisors (12 and canines is very rare with prevalence rates reported to be
22) (Fig. 14). as low as 0.14% by Lombardo et al [14].
The treatment plan included orthodontics to correct the Hypodontia is often associated with other dental
crowding and retaining the space of tooth 45 for a future anomalies such as interdental spacing, microdontia,
implant and reshaping the peg shaped maxillary lateral delayed tooth formation, over retained primary teeth,
incisors. and reduced development of the alveolar bone and
The timing of the diagnosis of hypodontia is important taurodontism [15]. Some studies however indicate
so as to choose an appropriate treatment plan which that the agenesis of permanent teeth shows a strong
requires good patient and parent cooperation in order correlation to the absence of the corresponding primary
to achieve optimum long-term results. predecessors, while others indicate that the absence
of a permanent successor causes a delay in the root
resorption of the corresponding primary teeth [4,12].
3. Discussion Cases 1, 2 and 3 all showed interdental spacing and
Non-syndromic hypodontia is the most common form retained primary teeth where the permanent successors
of congenitally missing teeth and can be familial or were congenitally missing. Additionally, Case 3 also
sporadic and usually occurs as an isolated trait. It can showed microdontia in the form of maxillary peg shaped
be inherited in an autosomal dominant, autosomal laterals.
recessive or an X linked pattern. The treatment approach for hypodontia is specific
The etiology of congenitally missing teeth is reported to to each case and is dependent on many factors such
be a combination of genetic and environmental factors as the number of teeth missing, the condition and
which can cause disturbances to the tooth germ during longevity of the primary predecessor, size and number
the initial formation stages [5,6]. of teeth remaining in both arches, the occlusal status,
The present cases represent a sporadic, non-syndromic facial growth patterns, patient and parent preferences
familial form of hypodontia. There was no known history including the financial aspect of the treatment options
of any genetic syndromes in all three cases. offered [4,16,17].
Congenital missing teeth are defined as those that fail to A multidisciplinary approach is highly recommended
erupt in the oral cavity and are not visible in radiographs. which helps in the short and long-term treatment
The diagnosis of tooth agenesis should be made after planning. The various specialists usually involved in the
the 6 years of age excluding the third molar, and after care of individuals with hypodontia include pediatric
10 years if evaluating the third molar [13]. A panoramic dentists, orthodontists, prosthodontists and oral
radiograph is the best means to diagnose the number surgeons.
of missing teeth. In the present cases, initial consultations were done with
Agenesis of the teeth in our case report was evident in the orthodontist and prosthodontist. The treatment plan
the panoramic X rays and confirmed the diagnosis of was discussed in detail with the parents and the patient
hypodontia. preferences were also taken into consideration.
The prevalence of hypodontia ranges from 1.6% to In cases of hypodontia, the treatment options usually
36.5%, depending on the population studied. include the timely extraction of the over retained primary
A 2014 systematic review found the overall global teeth that do not have a permanent successor to allow
prevalence of hypodontia to be 6.4%. Different spontaneous orthodontic space closure with or without
continents displayed different prevalence values with orthodontic alignment or placement of a prosthetic
Africa being the highest at 13.4%, followed by Europe at restoration to replace the missing tooth/teeth. In some
7%, Asia and Australia both 6.3%, North America 5% and cases, the primary tooth is retained to allow growth and
Latin America and the Caribbean displaying the lowest impede resorption of the alveolar bone which will help

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NON SYNDROMIC FAMILIAL HYPODONTIA -
A CASE SERIES

preserve the volume of the bone. This will facilitate the Chandawani for her help and support.
Case Report future placement of an implant in favorable locations,
with a reduced need for bone grafting [4,14,16,17].
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Acknowledgements
We would like to thank all of the study subjects for
their participation in our research especially Dr. Neeta

56 Stoma Edu J. 2018;5(1): 52-57 http://www.stomaeduj.com
NON SYNDROMIC FAMILIAL HYPODONTIA -
A CASE SERIES

Case Report
Halah BINLADEN
DDS, MSc, Specialist Pediatric Dentist
Department of Pediatric Dentistry MBRU Hamdan Bin Mohammed College of Dental Medicine
The Mohammed Bin Rashid University of Medicine and Healthcare Sciences (MBRU)
Dubai, UAE

CV
Dr. Halah Binladen graduated in 2002, obtaining her BDS degree from King AbdulAziz University in Jeddah, Saudi Arabia. She
practiced as a clinician in King Fahad General Hospital, one of the major government hospitals in Jeddah.
She obtained her MSc in Leadership and Healthcare management in 2011 from the Royal College of Surgeons in Dubai and
served as a Medical Director in a private hospital in Jeddah. She subsequently obtained her MSc degree in Pediatric Dentistry
in 2017 from the Hamdan Bin Mohammed College of Dental Medicine in Dubai, United Arab Emirates.
She is currently a specialist pediatric dentist at Mohammed Bin Rashid University (MBRU) where she treats pediatric patients
including those with special health care needs, with a core focus on behavior management and prevention of dental caries.

Questions
1. Oligodontia is defined as the agenesis of how many tooth/teeth?
qa. One permanent tooth;
qb. One primary tooth;
qc. Six or more permanent teeth;
qd. Six or more primary teeth.

2. Which are the most commonly congenitally missing teeth?
qa. Mandibular first premolar and maxillary central incisor;
qb. Mandibular second premolar and maxillary lateral incisor;
qc. Maxillary first premolar and mandibular central incisor;
qd. Maxillary second premolar and mandibular lateral incisor.

3. Which dental anomaly is usually associated with hypodontia?
qa. Interdental spacing;
qb. Over retained primary teeth;
qc. Taurodontism;
qd. All of the above.

4. What is the treatment approach for hypodontia dependent upon?
qa. Number of missing teeth;
qb. Size of the remaining teeth;
qc. Occlusal status of the patient;
qd. All of the above.

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