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Review Article
Amelogenesis imperfecta and anterior open bite:
Etiological, classification, clinical and management
interrelationships
Xanthippi Sofia Alachioti1, Eleni Dimopoulou1, Anatoli Vlasakidou1 and Athanasios E Athanasiou1,2

Abstract
Although amelogenesis imperfecta is not a common dental pathological condition, its etiological,
classification, clinical and management aspects have been addressed extensively in the scientific
literature. Of special clinical consideration is the frequent co‑existence of amelogenesis imperfecta
with the anterior open bite. This paper provides an updated review on amelogenesis imperfecta as
well as anterior open bite, in general, and documents the association of these two separate entities,
in particular. Diagnosis and treatment of amelogenesis imperfecta patients presenting also with
anterior open bite require a lengthy, comprehensive and multidisciplinary approach, which should
aim to successfully address all dental, occlusal, developmental, skeletal and soft tissue problems
associated with these two serious clinical conditions.

Key words: Amelogenesis imperfecta, anterior open bite, multidisciplinary dental treatment

Introduction until 1938, when AI was described as an autonomous

entity.[7,12]
Although amelogenesis imperfecta (AI) is not a common dental
pathological condition (its prevalence ranges from 1 in 2000 up Regarding AI’s etiology, numerous studies have reported a variety
to 1 in 18,000 cases),[1‑3] its etiological, classification, clinical in its inheritance pattern, including either autosomal, X‑linked,
and management aspects have been addressed extensively dominant or recessive models.[13] Sundell and Valentin[14] shed
in the scientific literature. For the clinician, of great importance light on how each specific form of AI is inherited, unraveling the
is the cause and effect relationship of abnormal dentoskeletal indistinct aspects. More specifically, it was mentioned that enamel
characteristics in AI patients, especially in open bite cases. This hypoplasia is inherited predominantly in a sex‑linked, incomplete,
paper aims to provide an updated review on AI and anterior dominant trait, whereas enamel hypomineralization in an
open bite (AOB), in general, and to document the association autosomally dominant manner.[15,16] Conversely, AI’s inheritance,
of these two separate entities in many patients. in general, is quoted to be mainly autosomal dominant, without
excluding recessive X‑linked or sporadic inheritance. [7,17]
Etiology of Amelogenesis Imperfecta Variations in gene expressions lead to numerous gene defects,
which consecutively alter the phenotype.[4,18‑21] More specifically,
AI pertains to a group of developmental tooth abnormalities the ENAM mutation c. 1258_1259insAG is implicated for the
(also referred as hereditary dysplasia),[4] which affect the occurrence of hypoplastic phenotype in cases of homozygosity.[22]
genome of the individual and regard at least one of the stages ENAM mutations are transmitted in an autosomal‑dominant
of enamel formation.[5] AI is, in general, a hereditary disorder manner and are expressed with the hypoplastic type of AI. In
with clinical impact on both deciduous and permanent cases of hypoplastic AI, abnormal tooth eruption and coronal
teeth.[6‑11] AI was first described in 1890, but the substantial resorption appear, but it has yet to be proved if the abnormal
separation from dentinogenesis imperfecta was not made function of the enamel epithelium and ameloblasts cause these

1
Department of Orthodontics, Faculty of Dentistry, Access this article online
School of Health Sciences, Aristotle University of Quick Response Code:
Thessaloniki, Thessaloniki, Greece, 2Dubai School of Dental Website:
Medicine, Dubai, United Arab Emirates www.jorthodsci.org

Address for correspondence: Prof. Athanasios E. Athanasiou

Professor and Program Director in Orthodontics Dubai School of
DOI:
Dental Medicine, P.O. Box 505097, Dubai Healthcare City, Dubai,
United Arab Emirates. 10.4103/2278-0203.127547
E‑mail: [email protected]

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Alachioti, et al.: Amelogenesis imperfecta and anterior open bite

two problems. Abnormal tooth eruption is irrelevant to ENAM crowns, spacing in the anterior region of the dentition, normal
mutations and enamelin appears to have no impact on tooth or tight proximal contacts in the posterior region, and a general
eruption.[22] Elsewhere, it is presumed that responsible is the gene enamel caries resistance.[7,15] Reduced enamel thickness
codifying amelogenin (the most abundant protein of enamel) and combined with normal hardness and radio‑opacity in the
more specifically differentiations in degradation and resorption case of hypoplastic AI has been described, whereas in the
are the ones that lead to the occurrence of hypomineralized case of hypomature or hypocalcified AI enamel is of normal
enamel.[23,24] Conclusively, albeit all the progress that has already thickness, but softer and of reduced radio‑opacity. [3] The
been achieved, there are still inadequate and vague aspects diversity of manifestations is thoroughly delineated. Abnormal
that are to be enlightened, in order to completely acknowledge tooth eruption, morbid root and coronal resorption, congenitally
the physiopathology of this entity.[23] It is important to point out missing teeth, malocclusions, AOB, pulpal calcification,
the correlation of AI with two rather rare syndromes named Jalili dentin dysplasias, hypercementosis, root malformations and
syndrome and enamel dysplasia with hamartomatous atypical taurodontism have been ordinarily reported.[3,13,14,31,41,42] It should
follicular hyperplasia (EDHFH) syndrome. Jalili syndrome refers not be omitted from quoting the surface irregularities and the
to the co‑existence of cone rod dystrophy (CRD) and AI, due crown discoloration (mainly of yellowish brown shade).[15]
to a mutation of the CNNM4, which is a metal carrier. A variety Histological analysis could not prove the existence of prismatic
of symptoms including visual deficiency, abnormal dentition, architecture in enamel, whereas clinically and histologically the
photophobia, nystagmus increasing under photopic conditions dentin was not malformed or pitted.[3,43]
can also be presented with AI. It may be fully demonstrated either
in the infancy or in the childhood.[25] The second syndrome is
Management of Amelogenesis
exclusively reported in black South Africans. Hamartomatous
atypical follicular hyperplasia with features similar to central
Imperfecta
odontogenic fibroma in multiple impacted teeth and also a
generalized enamel dysplasia with features of hypoplastic AI An AI individual should be treated by a range of different
are nearly always present. Other conditions often mentioned specialists like pediatric dentists, orthodontists, maxillofacial
are open‑bite malocclusion, gingival overgrowth, hypodontia, surgeons and restorative dentists and not necessarily only
pulpal calcifications and aberrant root formation of the unerupted in that order. The management is often complex, takes a
teeth.[26] significant amount of time  (more commonly from childhood
to early adulthood), but its positive psychological effect
A recent report identified a FAM83H mutation in two of six on a wounded self‑esteem is priceless, thus replacing
unrelated families with autosomal dominant hypocalcified AI the counseling therapies that could be otherwise needed
and found limited phenotypic variation of the enamel in these in addition to the dental approach.[6,44‑47] As enamel of an
patients.[27] individual with AI is deprived of the normal prismatic structure,
many questions arise about the efficacy of bonding‑based
Classification of Amelogenesis restorative options. Many AI cases have been treated in the
Imperfecta past successfully enough with acid etch bonding methods,
implying that only the total absence of enamel layer leads with
AI can be generally and roughly divided into three categories; certainty to the failure of rehabilitation. The minimum standard
hypoplastic (enamel is thin and stained, but normally calcified), is the existence of a thin, even non‑prismatic layer of enamel.[22]
hypocalcified (soft enamel that can be removed without The age of the patient is a significant factor in order to decide
difficulty) and hypomature  (enamel is of normal thickness, which treatment path will be followed. Direct composite
but of reduced hardness {harder than the hypocalcified form} restorations are strongly recommended for children and
and its color varies from yellow/brown to red/brown).[2,13,22,28] adolescents with AI, as they can be easily adjusted according
Classification is mainly based on various criteria, not only to the dento‑alveolar development and they are minimally
the clinical appearance of the enamel (as the one mentioned invasive. Indirect restorations represent a more preferable
above), but also pattern of inheritance, phenotypical solution for adults, where an overall extensive treatment might
abnormalities and molecular disorders, biochemical analysis be required.[6,48‑51] As the field of micromechanical adhesions
of the enamel, etc.[29‑31] The number of AI subtypes mentioned is increasingly advanced and the genotypical determination
in the majority of the reports is 12.[32‑39] However, 14 categories of each specific type of AI is not far away, it is anticipated
of AI have also been mentioned.[40] that in the future the appropriate treatment will be chosen
upon the gene‑based diagnosis, leading to the best‑achieved
Clinical Manifestations of outcome.[20,22] As AI is characterized by a clinical diversity,
Amelogenesis Imperfecta a generic approach suitable in all cases of AI is to remove
the discolored tooth substance as well as the defective tooth
A variety of symptoms can be presented with AI. The most tissue and to cover‑up (masking) the defects. To achieve the
substantial findings comprise extensive loss of tooth tissue, best feasible, the tooth substance should be reduced as less
tooth sensitivity, excessive attrition leading to short clinical as possible result.[52]

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Alachioti, et al.: Amelogenesis imperfecta and anterior open bite

Anterior Open Bite in General malocclusion carry a homozygoys ENAM g13185‑13186

insAG mutation, whereas patients with the heterozygous
AOB is the failure of the incisors to overlap and is a vertical type of this mutation have only localized hypoplastic AI with
problem that requires orthodontic treatment for its correction. AOB[73] or without AOB.[71] The vertical craniofacial growth
AOB can arise from a number of causes such as inherited is determined by a variety of genes. It is possible that an
patterns, defects in embryologic development, trauma or unidentified gene influences the gene associated with this
functional influences. Specific genetic syndromes or congenital growth (e.g. ENAM and AMGX).[31] Many have claimed that
defects involving the jaws are rare, as are malocclusions the association between AOB and AI is due to a genetically
caused primarily by trauma. Altered soft tissue function and determined anomaly of craniofacial development affecting
sucking habits have traditionally been associated with vertical alveolar growth. [28,73,74] It has also been suggested that
growth problems, especially AOB.[53] Lack of eruption of the disturbances of the enamel epithilium can cause defects
upper incisors can possibly cause AOB, but rarely is the main in the eruptive mechanism thus resulting in AOB.[75] It has
reason. Instead, there is frequently an excessive eruption been noted that the pleiotropic action of AI genes affects
of posterior teeth, which in combination with the eruption of the development of the craniofacial complex.[76,77] Studies
anterior teeth in a normal amount, inevitably results in AOB. This have proved that deficiencies in formation, migration and the
excessive eruption of posterior teeth results to a compensatory proceeding development of neural crest cells (enamel and
downward and backward rotation of the mandible. On the skeleton of craniofacial complex may share a common neural
other hand, in other patterns of growth, where the mandible crest origin) may lead to a number of congenital anomalies of
rotates downward and backward, space is created into which craniofacial complex.[78,79] Subjects with AOB and AI present
the posterior teeth can erupt, allowing excessive posterior the same lateral cephalometric radiographic and clinical
dentoalveolar development.[54] Moreover, as the AOB is much characteristics (posterior maxillary vertical hyperplasia, high
more common in Blacks than Whites, whereas deep bite is palatal vault, accentuated maxillary but reversed mandibular
much more common in the later group, it seems reasonable curve of Spee, omega‑shaped maxillary dental arch and
that this reflects a different inherent facial morphology rather transverse discrepancy between maxillary and mandibular
than environmental influences.[55,56] dental arches) with AOB but non‑AI subjects. All these
indicate that AOB in AI subjects is of skeletal origin.[80] Clinical
Skeletal characteristics associated with AOB include increased investigations have shown that an anomaly of vertical jaw
anterior face height, steep mandibular plane, excessive relationship in combination with increased lower anterior
eruption of posterior teeth, maxillary constriction and high facial height has been observed in many AI patients.[28]
mandibular angle.[8,10,43,57‑61] AOB can be found in all different
malocclusions. Consequently, vertical dysgnathia is the main reason why AOB
is so frequently observed in patients with AI. Vertical dysgnathia
It appears that problems related to both esthetics and oral increases the anterior maxillomandibular distance leading to
function can produce a significant need for orthodontic AOB. At the same time, the increased lower anterior facial
treatment. The management of AOB is a difficult issue and height also results in incompetent lips. The tongue, thus, may
the results are not always predictable. If the AOB is diagnosed not behave normally either at rest position or during swallowing
before growth spurt, the growth modification treatment may and as a result an anterior oral seal can be produced. This
be successful.[62] On the other hand, if AOB is diagnosed after tends to cause or retain AOB, which in these patients cannot
growth spurt and treated with orthodontic extrusion of the be attributed to other potential local factors.[28] Based on the
anterior teeth, relapse cannot be avoided.[63,64] In this case, above‑mentioned statements, it can be said that the growth
orthognathic surgery by means of Le Fort I intrusion osteotomy, of dentoalveolar complex may be inhibited by the tongue.
in most of the cases, is believed to be the effective treatment.[9,65] It is highly unlikely that this could modify the morphology
of craniofacial complex to the extent that it has been found
Anterior Open Bite in Association with from the lateral cephalometric radiographic analyses.[28] It is
Amelogenesis Imperfecta claimed that the increased sensitivity of teeth either to cold
or to hot predisposes to a tongue interposition, which acts
AOB and AI separately do not occur often in the general as a mechanical obstacle to the vertical alveolar growth.[29,37]
population. However, clinical studies indicate that AOB Contrary to the above, the association between AOB and
is more commonly observed in patients with AI than in teeth hypersensitivity has been questioned.[28] Most of the
the general population.[66‑69] Regarding the etiology of this studies which investigated the prevalence of AOB in subjects
co‑existence a discussion arose regarding whether this with AI concluded that the prevalence varies between 24%
common factor is genetic, skeletal or local, with most of the and 60%.[28,29] Vertical dysgnathia in AI individuals was found
opinions advocating that this factor is of genetic origin. It has more often in women than in men, but without any statistically
been found that in patients with AI, who also carry ENAM significant difference. AOB most frequently occurred in the
or AMGX mutations, AOB is more often observed.[68,70‑73] hypocalcification type of AI, less in the hypoplastic type, and it
Patients with generalized hypoplastic AI, AOB and Class II was totally absent in the hypomaturation type.[28]

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Alachioti, et al.: Amelogenesis imperfecta and anterior open bite

Management of Amelogenesis Regarding the quality of dentin, a thicker peritubular dentin

Imperfecta Combined with Anterior is found in hypocalcified AI and dentin tubuli are partly or
Open Bite completely sclerotic. All the other types of AI have the same
or similar characteristics. [89] Glossiness, discoloration or
Orthodontic correction of AOB is considered to be very difficult abrasiveness can be the clinical signs of sclerotic dentin.[17] The
due to the high relapse rate observed in many cases.[80,81] bonding strength of sclerotic dentin is less effective compared to
Inevitably, surgical treatment of patients with AOB combined that of healthy dentin.[90‑92] Self‑etching primers or short etching
with AI is one of the challenging alternative therapeutic with phosphoric acid (total etch) are recommended according
modalities in orthognathic surgery.[15] Treatment of such patients to some studies.[92] A bracket or button may be bonded to the
is a challenge for any clinician and a multidisciplinary approach maxillary teeth to support the arch bar giving a solution to the
by a team of orthodontist, pediatric dentist, maxillofacial surgeon difficulty of applying the ligatures around the teeth due to the
and prosthodontist is usually necessary. Rehabilitation of such dentin conditions, tight contact surfaces between abraded
patients is best carried out in a specialized unit of a dental short premolars or molars, and the conical shape of teeth in
hospital.[2] Many factors should be taken into account such as the anterior region. The arch bar in the mandible can be fixed
the age of the patient, the quality and quantity of enamel, the with 4 or 6 circummandibular wires.[15]
periodontal condition and the skeletal developmental status.[2,17]
It is of vital importance to inform parents about the situation, the After surgery, when facial harmony as well as vertical and sagittal
prognosis and the cost of the treatment.[6] At the first stage of occlusal relationships are improved, orthodontic refinement
the treatment tooth sensibility should be reduced and attrition should follow.[17] During the settling period, stabilization with an
should be prevented. Patients should be informed about oral occlusal splint or with temporary restorations can be useful to
hygiene and all measures of prophylaxis should be taken the patients who are getting used to the new habitual resting
into consideration.[17] The pre‑surgical orthodontic treatment position. Final stabilization of the occlusion and articulation
should aim at the correction of the transversal relation with with permanent fixed crowns in centric relation is performed
rapid maxillary expansion or surgically assisted rapid maxillary 1 year after the surgery.[15] The prosthodontic treatment of
expansion. Alternatively, a three‑piece Le Fort 1 osteotomy will such teeth includes either application of adhesive material
be used during the operation. In cases of vertical dentoalveolar or fillings,[93] especially in transitional treatment of adolescent
discrepancies, orthodontic alignment is difficult because of patient[94] or use of gold or porcelain‑fused‑to‑metal crowns fixed
the enamel conditions and the height of the crowns. In this with conventional cements (e.g. zinc‑phosphate cements).[17]
case, a multi‑segment Le Fort 1 intrusion osteotomy is the Although the loss of tooth substance is greater in this case due
choice of treatment[82‑84] combined with bilateral sagittal split to shoulder preparation, metal crowns are considered to have
osteotomy or genioplasty, where required.[84,85] As a result, high precision and long‑term results.[17]
rehabilitation of the maxillary hyperplasia, the accentuated
curve of Spee and the omega‑shaped maxillary dental arch It is highly significant that a strict recall system and a good oral
can be achieved in a one‑stage surgical procedure with limited hygiene protocol are applied.[17] Due to the young age of the
or no pre‑surgical orthodontics.[15] The risk of periodontal patients, parents should be well informed about the prolonged
complications and damage to roots are some of the drawbacks period of the multidisciplinary treatment. Studies have shown
of multi‑segment Le Fort 1 osteotomy, which should be taken that biological and technical failures in rehabilitation of AI
into account. Vascular impairment may also lead to aseptic patients are no higher than those with no birth defects and
necrosis of teeth, loss of teeth or even loss of major maxillary conventional fixed reconstruction.[95] Complications of fixed
dentoalveolar segments.[86] Since a multi‑segment Le Fort 1 reconstructions tend to appear after 10 years of function or
osteotomy is often followed by a high rate of relapse, rigid later.[96] Other complications may include loss of transverse
internal fixation with micro‑screws or mini‑plates offers better stability (60% of patients), but this can be prevented by rigid
transverse skeletal stability[80,84] and more adaptive condylar internal fixation or progressive condylar adaptation (13%).[84]
capacity when applied.[87] It is suggested to use silicone putty
indices during the surgery to maintain control of the occlusion Conclusions
as well as a staged replacement of the previous restoration in
order to make the intercuspal and retruded contact position AOB is more commonly observed in patients with AI than in the
coincident.[2] A full cover occlusal splint can be utilized, when the general population implying the presence of a common factor
height of the crown allows, for maintaining the segments in the associated with these two conditions.
desired position on the arch bar.[15] It is highly significant that the
surgeon is informed about the planned prosthetic rehabilitation. Diagnosis and treatment of AI patients with AOB require
The reduced height of crowns in these patients may require a a lengthy, comprehensive and multidisciplinary approach,
larger than normal freeway space and the vertical position of which should aim to successfully address all dental, occlusal,
the maxilla should be determined by the relationship between developmental, skeletal and soft tissue problems associated
the upper lip and the incisal edge of the maxillary incisors.[15,88] with these two serious clinical conditions.

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