Case report: Rehabilitation of a child with

dentinogenesis imperfecta and congenitally

missing lateral incisors

C. Millet*, S. Viennot*, J.P. Duprez**

Depts of *Prosthodontics and **Paediatric Dentistry, School of Dentistry, University Lyon I, Lyon, France.

Abstract al., 2010]. Mutations in the genes encoding the major protein
BACKGROUND: Dentinogenesis imperfecta is one of constituents of dentine seem to underlie these hereditary
the most common hereditary disorders of dentine forma- dentine defects [Thotakura et al., 2000; Kida et al., 2009].
WLRQ 2SDOHVFHQW WHHWK FRPSRVHG RI LUUHJXODUO\ IRUPHG DQG The histological appearance of the enamel is reported to
undemineralised dentine that obliterates pulp chambers EH QRUPDO DOWKRXJK K\SRFDOFLHG GHIHFWV PD\ EH SUHVHQW
and root canals characterize it. Complete-coverage crowns Enamel cracking appears within the enamel itself or along
are usually the preferred restoration for patients with this WKHGHQWLQHHQDPHOMXQFWLRQ>:LWNRS+XWKHWDO@
condition. CASE REPORT: A 9 year-old girl presented with
Clinically this disorder is characterised by opalescent teeth
dentinogenesis imperfecta, congenitally missing maxillary
with marked attrition and short roots constricted in the cervical
lateral incisors and maxillary right permanent second molar
regions. But variations have been reported, especially in rela-
retention. TREATMENT: The treatment comprised an initial
tion to tooth colour and attrition pattern [Sapir and Shapira,
approach to allow the correct eruption of the retained sec-
.DPERMDQG&KDQGUD@$VVRRQDVWKHSULPDU\
ond molar. The use of low-fusion metal ceramic restorations
teeth have erupted, the enamel often becomes chipped and
comprised a second stage to improve the aesthetic appear-
fractures away. The exposed dentine is rapidly subjected to
ance and decrease the risk of overload on teeth with limited
severe attrition and periapical abscess formation is common.
value. FOLLOW-UP: The patient has been recalled regularly
In some cases, permanent teeth seem to be less suscep-
and at the last visit, 10 years after initial prosthetic treatment,
tible to an excessive attrition and the dental caries index is
no problems or signs of complications have occurred. The
low [Sapir and Shapira, 2001; Bouvier et al., 2008]. During
SDWLHQW LV QRZ DJHG  \HDUV DQG LV VWLOO VDWLVHG ZLWK WKH
a clinical examination, in both dentitions, it is important to
prosthetic rehabilitation. CONCLUSION: This case illustrates
consider tooth colour (variable from normal to blue grey or
the need for appropriate and timely restorative treatment to
yellow brown), tooth wear, abscess formation, tooth mobility
prevent deterioration of the dentition. This case will also dem-
and early loss of teeth [Barron et al., 2008].
onstrate that low-fusion metal ceramic restoration is a viable
esthetic treatment option for todays patients. Radiographically the crowns are bulbous, with a constricted
area at the cement-enamel junction. The roots appear
Introduction shortened and conical or spike like. In both primary and
Dentinogenesis imperfecta (DI) is an autosomal dominant permanent dentitions the pulp chambers and root canals are
genetic disorder characterised by abnormal dentine struc- often obliterated [Pettiette et al., 1998; Kantaputra, 2001].
ture affecting the primary and permanent dentitions [Barron
%HFDXVH HQGRGRQWLF WUHDWPHQW LV GLIFXOW DQG KDV D YHU\
et al., 2008]. Currently, this anomaly is subdivided into three
poor prognosis, early diagnosis is fundamental to enable
W\SHV>6KLHOGVHWDO@',,LVDVVRFLDWHGZLWKRVWHRJHQ-
appropriate preventive interventions and optimal dental
esis imperfecta and may be recessive; DI-II and DI-III are
WUHDWPHQWWKHUHE\PLQLPLVLQJQXWULWLRQDOGHFLWVDQGSV\FKR-
restricted to the dentine. DI-II, or hereditary opalescent den-
social distress [Mendel et al., 1981; Delgado et al., 2008]. A
tine, is one of the most common dominantly inherited dentine
multidisciplinary treatment approach is usually required for
defects. DI-II is characterised by bulbous crowns with marked
treatment of these patients, including orthodontics, prostho-
cervical constriction. DI-III, the rarest, is a form found in a tri-
GRQWLFVDQGUHVWRUDWLYHGHQWLVWU\>.LQGHODQHWDO@7KH
racial population from Maryland and Washington DC (USA)
treatment strategy includes consideration of a patients age,
known as the Brandywine isolate. This form is associated
function, aesthetics, and severity of the attrition. To maintain
with hypotrophy of the dentine. DI occurs in both sexes with
the vertical dimension, full coverage crowns are usually rec-
DQLQFLGHQFHRILQWRLQ>:LWNRS.LP
RPPHQGHG >%RXYLHU HW DO  0RXQGRXUL$QGULWVDNLV HW
DQG6LPPHU@
al., 2002; Groten, 2009]. However, some authors do not rec-
Histological studies have shown changes in interglobular RPPHQGXVLQJWHHWKDVDEXWPHQWVIRU[HGSDUWLDOGHQWXUHV
dentine and dentinal tubules with pulpal obliteration that or removable partial dentures because of their brittleness
could be related to an odontoblast dysfunction [Majorana et >5DQWD HW DO  +HQNH HW DO @ ,Q FDVHV LQYROYLQJ

Key words: dentinogenesis imperfecta, tooth agenesis, dental retention, treatment

Postal address: Prof C. Millet, Facult dOdontologie, Rue Guillaume Paradin, 69372 Lyon Cedex 08, France.
Email: cathymillet@yahoo.fr

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European Archives of Paediatric Dentistry // 11 (Issue 5). 2010
 Dentinogenesis imperfecta

excessive attrition, over-dentures or implants with removable by replacing missing lateral incisors using canines seemed
prostheses have been proposed [Darendeliler-Kaba and WR JLYH D EHQHFLDO UHVXOW 0RUHRYHU WKH IDFLDO DSSHDUDQFH
Marchaux, 1992; Henke et al., 1999]. VKRZHG D FRQYH[ SUROH ZKLFK FRQWUDLQGLFDWHG DQ RUWKR-
dontic space opening.
This case report illustrates the chronology and the long-term
rehabilitation of a young girl suffering from DI with congenital At initial examination and treatment planning time, the patient
absence of maxillary lateral incisors. was deemed to be too young for prosthetic rehabilitation. The
WUHDWPHQW SODQQLQJ ZDV GHQHG WKHUHIRUH LQ WZR SKDVHV
Case report an initial stage to ensure the eruption of second molars, a
A 9-year-old girl in good general health presented to the pae- second stage to establish aesthetic appearance by metal
diatric dentistry department, Hospices Civil, Lyon, (France). ceramic restorations without orthodontic therapy. The patient
She indicated a desire to improve the appearance of her and her parents were informed of the diagnosis and treat-
anterior teeth. Her father had been treated for DI type II in ment plan, which they accepted.
the department several few years before. The patient had
a permanent dentition. Premolars and canines had recently Figure 1. Dentinogeneis imperfecta in a 9 year old girl
erupted, and second molars were unerupted. showing: A. Intra-oral photograph showing characteristic
The oral examination showed an absence of both maxillary discolouring and the absence of maxillary lateral incisors; B.
permanent lateral incisors that were congenitally missing and 2UWKRSDQWRPRJUDSKRIWKHFKLOGDWDJH\HDUVZLWKLPSDF-
replaced by migration of the canines, and a crossbite involv- tion of the maxillary right second molar; C. initial treatment
ing the right canines. Most of teeth appeared discoloured phase showing tooth preparations for restorations.
because of pale greyish enamel and brown dentine (Figure
A
1a). The crowns were intact without loss of enamel or attri-
tion. The girl had good oral hygiene, was caries-free, and did
not exhibit any periodontal problems. Radiographically, the
crowns were bulbous with marked cervical constriction; den-
tine and enamel were normal in density, but pulp chambers
were obliterated (Figure 1b).
A diagnosis of type DI type II was made from the family history,
clinical and radiographic features of this disorder. No history
or signs of DI-I, which is associated with osteogenesis imper-
fecta such as a history of multiple fractures of his long bones,
laxity of the joints, blue sclera or hearing loss [Schwartz and
B
Tsipouras, 1984], were present. Dentine dysplasia (DD) may
also be differentiated from DI. There were no signs of severe
root shortening and tooth mobility as described for DD type
I and no pulp stones or thistle shaped pulp chambers were
found, which is characteristic of DD type II [Huth et al., 2002].

Treatment
The main therapeutic goal was to improve the aesthetic
appearance of the teeth with a view of reducing the possi-
bility of related psychologic problem. Two possibilities were
considered: treating the patient with or without orthodontic
therapy. The quickest and most predictable guide for deter- C
mining the treatment plan was to construct a diagnostic
wax-up, which enables a dental team to evaluate the optimal
treatment and to determine whether an aesthetic functional
result was achieved. Thus, prior to treatment in this case
diagnostic casts were obtained and a diagnostic wax-up was
created.
In the present case, the permanent maxillary canines were
PRGLHG WR UHVHPEOH ODWHUDO LQFLVRUV DQG WKH GLDVWHPD
between the maxillary central incisors was suppressed.
Based on the wax-up, creating a prosthetic space closure

257
European Archives of Paediatric Dentistry // 11 (Issue 5). 2010
C. Millet et al.

Initial treatment. The patient was examined at regular inter- Figure 2. Intra-oral photgraphs of restorations: A. mandibu-
vals to check for eruption of the second molars. When the lar; B. maxillary.
child was 12 years old, all second molars had erupted except
the maxillary right second molar. The radiology assessment A
control showed a mesioangular inclination of the tooth; the
bulbous crown with cervical constrictions was the cause of
WKHUHWHQWLRQ)LJE2UWKRGRQWLFWUDFWLRQLVDPDMRUPRGDOLW\
in treatment of a retained molar. However, in this case a large
amount of mesiodistal movement and tipping was necessary
because the crown was very bulbous with an important con-
stricted area at the cement-enamel junction. It was proposed
to reduce a risk of root resorption by making a proximal dental
reduction using a bur and waiting for spontaneous eruption.
7ZRPRQWKVODWHUWKHWRRWKIXOO\HUXSWHGDQGZDVWWHGZLWK
SUHIRUPHGPHWDOFURZQ30&,RQ0(63(7KLUGPRODU B
tooth germs were removed as a preventive measure.
Second stage. When the child was 14 years old, she was
admitted for prosthetic rehabilitation. The bone growth stage
KDG EHHQ UHDFKHG  PRQWKV HDUOLHU DQG PD[LOODU\ JURZWK
was stable. Initial impressions were taken, and mounted on
a semi-adjustable articulator; a second wax-up was made for
maxillary anterior teeth. The permanent maxillary canines
ZHUHPRGLHGWRUHFUHDWHQRUPDOODWHUDOLQFLVRUVDQGPD[-
LOODU\ UVW SUHPRODUV WR UHVHPEOH FDQLQHV 7KH ZD[XS ZDV
duplicated and a vacuum-formed matrix was made. Maxillary
and mandibular anterior teeth, premolars and maxillary right
second molars were prepared for metal ceramic restorations
with metal margins. The preparation depth was 2.0mm for
Figure 3. Follow-up situation 12 months after restorations: A.
the occlusal surface, and 1.5mm for the labial, lingual and
Intra-oral photograph showing restorations; B orthopantomo-
palatal surfaces (Fig. 1c). Pulp vitality was maintained for all
gram showing full mouth restorations.
the teeth. Maxillary provisional restorations were fabricated
chair-side using the matrix and an autopolymerizing acrylic A
UHVLQ8QLIDVW7UDG*&$PHULFD0DQGLEXODUWHHWKZHUHW-
WHG ZLWK SRO\FDUERQDWH UHVLQ UHVWRUDWLRQV ,RQ 0 (63(
The anterior guidance was preserved to decrease lateral
forces on the posterior dentition. The observation period with
the provisional restoration was 4 months.
Occlusal registrations. These were obtained with wax
ZHGJHV &RPSOHWH DUFK GHQLWLYH LPSUHVVLRQV ZHUH PDGH
with individual impression trays using a one-step technique
XVLQJ SRO\ YLQ\O VLOR[DQH ([SUHVV 0 (63( )URP WKHVH
impressions, casts were made and mounted on a semi-
adjustable articulator to produce 19 individual frameworks
B
for metal ceramic restorations. A precious alloy (Degunorm,
Degussa AG) was used for producing all frameworks that
ZHUH WULHG LQ WKH SDWLHQW
V PRXWK WR FKHFN WKH PDUJLQDO W
and centric relation position. A low-fusion ceramic (Ducera,
'HJXVVD$*ZDVWKHQDSSOLHGWRSURGXFHPHWDOFHUDPLF
crowns on incisors, canines, mandibular premolars (Fig 2a).
7KH PD[LOODU\ ULJKW VHFRQG PRODU DQG SUHPRODUV ZHUH W-
ted with metal ceramic crowns with metal occlusal surfaces
(Fig 2b).

258
European Archives of Paediatric Dentistry // 11 (Issue 5). 2010

Figure 4. Intra-oral photograph showing restoration of
dentiongenesis imperfecta affected teeth 10 years after full
mouth restoration.
Dentinogenesis imperfecta
teeth and a good upper lip support. Moreover, the gingival
level of the canines was acceptable because the patients
smile line was low.
Given their reliability and durability, conventional metal ceramic
restorations with a complete-crown preparation design
generally are a treatment of choice for anterior single tooth
Completion of initial treatment. The crowns were tried in
the patients mouth, and minor occlusal corrections were
PDGHEHIRUHWKHQDOJOD]LQJ$PXWXDOO\SURWHFWHGRFFOXVDO
scheme was designed to allow even distribution of forces
during lateral movements. There were no interferences in
the anterior guidance apart from the contacts on the anterior
teeth. All restorations were cemented using glass ionomer
UHVWRUDWLRQVDQG[HGSDUWLDOGHQWXUHV)3'V+RZHYHUWKLV
technique requires considerable reduction of tooth structure.
Modern concepts in restorative dentistry have brought new
conservative solutions through bonded porcelain veneers.
However, in cases with severe discolouration, full-coverage
restorations are required to properly restore teeth. Moreover,
complete-coverage crowns are usually the preferred restora-
tion for patients with DI to reduce the risk of enamel fracture
>+XWKHWDO.LQGHODQHWDO@,QGHHGWKHULVNRI
enamel fracture is important for the palatal surface of maxil-
lary anterior teeth, particularly if mandibular incisors are in
functional contact. Full coverage crowns protect the dental
tissues from further destruction [Moundouri-Andritsakis et
al., 2002]. Alternative veneering materials, direct or indirect
composite, may suffer from degradation of surface features
and accretion of surface stain with time [Walls et al., 2002].
FHPHQW )XML , *& 86$ WKH SDWLHQW ZDV VDWLVHG ZLWK WKH
treatment result.
Follow-up
7KH SDWLHQW ZDV PRQLWRUHG DW PRQWK LQWHUYDOV IRU  \HDU
Some clinical cases treating patients with DI using all-ceramic
restorations have been described in the literature [Moundouri-
Andritsakis et al., 2002; Groten, 2009]. Although all-ceramic
materials offer certain advantages (aesthetics, biocom-
patibility), chipping is reported to be a major complication
)LJDQGWKHQRQFHD\HDU7HQ\HDUVIROORZXSUHYHDOHG
a successful result with no functional, aesthetic or radio-
logical problems. A mild gingivitis was present around the
restored maxillary anterior teeth (Fig. 4). The patient, now
aged 25-years-old is happy with her appearance and molars
showed no signs of abrasion.
Discussion
The choice of the rehabilitation depends on a patients age
at the beginning of the treatment and the severity of the attri-
tion. This case is unusual because the oral situation showed
no loss of tooth substance by abrasion or erosion. For this
reason the molars of our patient were not treated except the
maxillary right second molar. However the treatment was
long and complex. Patient collaboration and parent compli-
ance are factors of success.
The importance of maxillary lateral incisors for aesthetics is
well documented. Missing maxillary lateral incisors create a
major aesthetic problem due to their strategic position in the
smile. The two treatment approaches commonly taken are
creating adequate space to prosthetically replace the missing
lateral incisors or closing the spaces and replacing the miss-
ing lateral incisors by the canines [Sabri and Aboujaoude,
2008]. In the case of our patient canine substitution without
orthodontic approach was preferred because the adjacent
teeth required restorative intervention and the patients facial
SUROH ZDV UHODWLYHO\ FRQYH[ ZLWK QRUPDOO\ LQFOLQHG DQWHULRU
associated with the use of all-ceramic materials, especially
]LUFRQLD>.LPHWDO6LDGDWHWDO*URWHQ
Land and Hopp, 2010]. No all-ceramic restoration has been
shown to have a life span equivalent to that of metal ceramic
restorations. Further clinical trials are needed. For anterior
crowns, a recent review suggests that many all-ceramic res-
torations were found to demonstrate acceptable longevity
compared with conventional restorations (e.g., metal ceramic
crowns). But for restoration of posterior teeth, this review
suggests that relatively few all-ceramic systems will provide
predictable long-term success [Land and Hopp, 2010].
The use of precious metal alloy and low-fusion ceramic pro-
vides a lower surface hardness and may decrease the risk of
overload on these teeth with limited value [Moundouri-Andrit-
sakis et al., 2002; Bouvier et al., 2008]. Some porcelains
with low-fusing temperatures have demonstrated less wear
WKDQ KLJKIXVLQJ SRUFHODLQV +DFNHU HW DO >@ UHSRUWHG
that a low-fusing porcelain abraded enamel less than a more
conventional feldspathic porcelain, as have others [Derand
and Vereby, 1999]. Moreover, this reduces the risk of chip
fractures that can occur on zirconium-based restorations and
feldspathic-ceramic crowns.
Conclusion
In this present case, treatment outcomes were favourable.
All teeth and all restorations remained free from failures/com-
plications. It illustrates the need for appropriate and timely
259
European Archives of Paediatric Dentistry // 11 (Issue 5). 2010
C. Millet et al.
restorative treatment to prevent deterioration of the dentition.
The choice of which restoration to use is indicated by the
immediate and long-term needs of each individual patient.
2FFOXVLRQ DHVWKHWLFV DQG PRUSKRORJ\ DUH LPSRUWDQW EXW
none of these factors is more important than longevity.
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European Archives of Paediatric Dentistry // 11 (Issue 5). 2010