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References

Majorana A, Bardellini E, Brunelli PC, Lacaita M, Cazzolla AP, Favia G. Dentinogenesis imperfecta in children with osteogenesis imperfecta: a clinical and ultrastructural study. Int J Paediatr Dent. 2010; 20:112-118
Huber MA. Osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007; 103:314-320
Malmgren B, Norgren S. Dental aberrations in children and adolescents with osteogenesis imperfecta. Acta Odontol Scand. 2002; 60:65-71
Teixeira CS, Santos Felippe MC, Felippe WT, Silva-Sousa YT, Sousa-Neto MD. The role of dentists in diagnosing osteogenesis imperfecta in patients with dentinogenesis imperfecta. J Am Dent Assoc. 2008; 139:906-914
Saeves R, Lande Wekre L, Ambjornsen E, Axelsson S, Nordgarden H, Storhaug K. Oral findings in adults with osteogenesis imperfecta. Spec Care Dentist. 2009; 29:102-108
Seikaly MG, Kopanati S, Salhab N, Waber P, Patterson D, Browne R Impact of alendronate on quality of life in children with osteogenesis imperfecta. J Pediatr Orthop. 2005; 25:786-791
O'Connell AC, Marini JC. Evaluation of oral problems in an osteogenesis imperfecta population. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999; 87:189-196
Kindelan J, Tobin M, Roberts-Harry D, Loukota RA. Orthodontic and orthognathic management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta: a case report. J Orthod. 2003; 30:291-296
Abdelmalek NF, Gerber TL, Menter A. Cardiocutaneous syndromes and associations. J Am Acad Dermatol. 2002; 46:161-183
Morton ME. Excessive bleeding after surgery in osteogenesis imperfecta. Br J Oral Maxillofac Surg. 1987; 25:507-511
Prince SE, Simpson MT. Osteogenesis imperfecta. Br J Oral Maxillofac Surg. 2000; 38:399-400
Shields ED, Bixler D, El-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Archs Oral Biol. 1973; 18:543-553
Ogunsalu C, Hanchard B. Familial tarda type osteogenesis imperfecta with dentinogenesis imperfecta type I. Case report. Aust Dent J. 1997; 42:175-177
Tanaka T, Murakami T. Radiological features of hereditary opalescent dentin. Dentomaxillofac Radiol. 1998; 27:251-253
Cauwels RG, De Coster PJ, Mortier GR, Marks LA, Martens LC. Dentinogenesis imperfecta associated with short stature, hearing loss and mental retardation: a new syndrome with autosomal recessive inheritance?. J Oral Pathol Med. 2005; 34:444-446
Hart PS, Hart TC. Disorders of human dentin. Cells Tissues Organs. 2007; 186:70-77
Waltimo J, Ojanotko-Harri A, Lukinmaa PL. Mild forms of dentinogenesis imperfecta in association with osteogenesis imperfecta as characterized by light and transmission electron microscopy. J Oral Pathol Med. 1996; 25:256-264
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979; 16:101-116
Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000; 15:1650-1658
Glorieux FH, Ward LM, Rauch F, Lalic L, Roughley PJ, Travers R. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res. 2002; 17:30-38
Ward LM, Rauch F, Travers R, Chabot G, Azouz EM, Lalic L Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone. 2002; 31:12-18
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004; 363:1377-1385
Schwartz S, Tsipouras P. Oral findings in osteogenesis imperfecta. Oral Surg. 1984; 57:161-167

A review of osteogenesis imperfecta in relation to orthodontic treatment

From Volume 6, Issue 1, January 2013 | Pages 21-24

Authors

Anna Cala

BDS

Department of Orthodontics, Kettering General Hospital, Kettering, UK

Articles by Anna Cala

Julian O'Neill

MOrth, BDS, FFD RCS RCS(Eng)

Department of Orthodontics, Kettering General Hospital, Kettering, UK

Articles by Julian O'Neill

Abstract

This case report describes a 13-year-old patient suffering from osteogenesis imperfecta (OI) and hypodontia. Different issues related to clinical presentation and orthodontic treatment of patients with OI are discussed in this report.

Clinical Relevance: Dental and orthodontic features associated with OI and their impact on treatment are described in this report. It is important to know these features as patients presenting with OI may require orthodontic treatment.

Article

Osteogenesis imperfecta (OI) known as ‘brittle bone disease’ is defined as a group of heritable connective tissue disorders, caused by a defect in the synthesis of type I collagen. The most common causes of this condition are mutations of the genes COL1A1 and COL1A2 that encode chains of type I collagen.1 Because of the variety in clinical presentation and the emergence of new genetic mutations, the exact incidence of OI is unknown. However, an incidence rate of 1:5000 to 1:20,000 live births was reported by different authors.2,3

Clinical presentation

Patients with OI may show a plethora of signs and symptoms related to the defective collagen present in different structures of the body, including bone, sclera, skin, ligaments, blood platelets, auditory ossicles, inner ear and teeth. Thus, the signs and symptoms include:

  • Fragile bones with frequent fractures, skeletal deformities and growth deficiency.1,4,5 These patients often suffer from bone pain.2,6 As a result of skeletal deformities, different features can occur. These include short stature, shortness of neck, increased chest size and thoracic deformity. However, there is a large variation in presentation, from patients who seem to be absolutely fit to those confined to a wheelchair.7 Facial traits include a triangular face, a broad bossed forehead and a true or relative macrocephaly with an overhanging occiput.7,8
  • Blue sclera, caused by a thin, translucent collagen layer, allowing the underlying tissues to show through.9
  • Joint and skin laxity.1,4,5 The skin of patients with OI is often thinner and more translucent with a tendency to bruise easily (due to increased capillary fragility). Normal healing processes may be affected and wounds may consequently develop into wide scars.9
  • Bleeding diatheses (as a consequence of platelet dysfunction or small vessel fragility).2,10
  • Cardiovascular manifestations including defects of heart valves or large blood vessels.9
  • Progressive hearing loss.1,4,5
  • Features of hypermetabolic state. These include increased heart and respiratory rate, increased oxygen consumption, higher than average body temperature, heat intolerance and an increased tendency to developing malignant hyperthermia.2,8,11
  • Dentinogenesis imperfecta (DI). This is characterized by opalescent bluish-grey to brown-coloured teeth, with the deciduous teeth often being affected more severely than the permanent ones. Because of the dentinal defects, enamel, although possessing a normal structure, easily splits off, exposing the underlying dentine which may undergo accelerated attrition. Clinically, the teeth may have bulbous crowns and cervical constriction. Radiographically, the teeth have short narrow roots and small or obliterated pulp chambers with pulp stones commonly seen.11,12,13,14,15,16 Pulp chambers and canals become increasingly obliterated with time.1,4,5,17
  • A higher rate of latex allergy. Patients with OI have a 10% incidence of latex allergy compared to 1% in the general population.7

    • Classification

    OI is classified on the basis of clinical, genetic and radiographic features.1 Sillence et al18 divided OI into four types. Since then further types have been added:

  • Type I (autosomal dominant) – mild OI with blue sclera and almost normal stature, hearing impairment and, rarely, DI.18
  • Type II (autosomal recessive) – the most severe. Termed ‘lethal perinatal OI as patients usually die in the perinatal period.18 This form demonstrates crumpled femurs and beaded ribs, radiographically.
  • Type III (autosomal recessive) – progressively deforming OI with normal sclera, short stature, usually with DI and rarely with hearing loss.18
  • Type IV (autosomal dominant) – mild to moderate OI with normal sclera, usually with DI and no hearing deficiency.18 This type has been further subdivided into types V, VI and VII, according to clinical and histological features.18,19,20
  • Type V (autosomal dominant) – moderate to severe OI without blue sclera or DI but with severe limitations of hand movements and increased tendency to hyperplastic callus formation after surgical procedures. Callus is defined as a hard, painful and warm swelling occurring over the affected bone. Limitations of hand movements are the result of the calcification of the interosseous membrane of the forearm. Interestingly, OI type V is not associated with mutations of type I collagen.19
  • Type VI (genetic pattern unknown) – moderate to severe OI with a mineralization defect causing increased accumulation of osteoid in bone and thus a lower volume of mineralized bone (osteopenia). The sclera are normal, and there is no DI. As in type V, no mutations of COL1A1 and COL1A2 have been detected.20
  • Type VII (autosomal recessive) – a very rare form of OI, present only in a small, consanguineous First Nations community in northern Quebec. It is a moderate to severe form of OI demonstrating multiple fractures at birth, bluish sclera, no DI and no hearing loss. Typical features include rhizomelia (shortening of the proximal limb segments) and coxa vara (deformity of the hip resulting in the affected leg being shortened, producing a limp). The early deformities and impaired growth result in short stature. There is no involvement of COL1A1 and COL1A2 genes.21
  • The most relevant clinical characteristic of all types of osteogenesis imperfecta is bone fragility, the severity of which increases in the following order: type I < types IV, V, VI and VII < type III < type II.19,20,22

    • Dental findings in OI

    Dental abnormalities which may be associated with OI include: DI, taurodontism, Class III malocclusion, impaction of permanent first or second molars and hypodontia.5,7,3,23

  • DI may appear in association with OI (DI type I) or on its own (DI types II and III). Prevalence of DI in patients suffering from OI varies, depending on clinical investigations and the type of OI. It was reported that 19% of patients with OI also had DI diagnosed clinically, but this incidence increased to 70% when radiological features were also taken into account.5 In general, different authors noticed that the incidence of DI is greater in more severe types of OI (III and IV) than in type I.3,5,7,17,23
  • An increased prevalence of taurodontism (apically extended pulp chambers) in patients with OI has been reported.3,5
  • Class III malocclusion has been reported to exist in over 60% of patients with OI and is often associated with posterior X-bite.7,23
  • Impaction or ectopic eruption of first and second molars has been noted by different authors.3,7,23 The reason for this, in the upper jaw, could be due to a small maxilla in a retruded position.7
  • Hypodontia describes a situation when one or more permanent teeth (excluding third molars) are congenitally absent. Little has been written in the literature about association between OI and hypodontia but some authors have found an increased incidence of hypodontia in patients with OI. Saeves et al found that there are twice as many missing teeth in patients with OI as in a normal population. However, the authors did not specify if teeth were congenitally absent, or had been removed for other dental reasons.5 One group of authors reported that hypodontia exists in 10% of patients with OI,7 and another in 22%.3

    • Case report

    A 13-year-old Caucasian boy was referred by his dentist regarding treatment for his Class II malocclusion. His presenting complaint was drooling, which caused teasing at school.

    Medical history

    Medical history revealed that this boy suffered from OI. Diagnosis of OI type I had been made when the patient was three years old, following a history of repeated fractures (right femur 1999, left tibia 2000, two bones in left wrist 2000). Following this diagnosis, further fractures occurred (index finger 2001, right hallux 2001, big toe 2002, middle toe 2008, right arm 2009). The patient also exhibited an increased tendency to bleeding with 1–2 episodes of epistaxis every month, and bruising. He had hypermobile joints in both hands causing problems with fine motor skills such as writing and using a ruler. He was born with bilaterally dislocated hips but this had resolved spontaneously by the age of three months. There was no family history of OI.

    Assessment

    The patient was of normal height but with a noticeably large head, triangular face and blue sclera. He also had thin long fingers. He presented in the late mixed dentition stage with all second deciduous molars present and infra-occluded. Clinically, there were no signs of DI affecting any teeth. Indeed, there was no evidence of the primary dentition being affected, either from parental recollection or previous dental records. The patient presented with a Class II division 1 incisor relationship on a Class II skeletal base. There was a significantly increased overbite (>100%), which was complete and potentially traumatic (Figure 1). Radiographic analysis demonstrated hypodontia. UR5, UL4 and UL5, LL5 and LR7 were congenitally absent (Figure 2).

    Figure 1. (a) Blue sclera; (b) pre-treatment upper occlusal; (c) pre-treatment lower occlusal; (d) pre-treatment intra-oral right; (e) pre-treatment intra-oral front; (f) pre-treatment intra-oral left.
    Figure 2. (a) Pre-treatment dental panoramic tomogram; (b) pre-treatment lateral cephalogram.

    Treatment

    The decision was made to start the treatment with oral hygiene instruction and following that a medium opening activator (MOA) was fitted. After 9 months of full–time wear, the overjet and overbite had been reduced. All four deciduous second molars had been extracted and it was decided that the upper left deciduous canine would be retained and its permanent counterpart would become a proxy for the absent UL4. The LR5 erupted satisfactorily. Treatment with fixed pre-adjusted edgewise appliances was then commenced (Figures 3 and 4).

    Figure 3. (a) Post-functional lateral cephalogram; (b) post-functional upper occlusal; (c) post-functional lower occlusal; (d) post-functional intra-oral right; (e) post-functional intra-oral front; (f) post-functional intra-oral left.
    Figure 4. (a–e) Mid-treatment mechanics.

    Discussion

    This case report highlights a number of issues associated with OI that are of relevance to orthodontists. First, it is likely that such patients will require orthodontic treatment for their malocclusion. Although a review of the literature shows that patients with OI most commonly have a Class III malocclusion, this case report shows that a different malocclusion may be present. Secondly, these patients may also have DI and, less commonly, hypodontia or other dental abnormalities. Although DI may be present, direct bonding of orthodontic brackets is normally not contra-indicated and is usually achievable.7 However, the use of direct bonding should be reconsidered in severe cases of DI, where enamel fracture may be more likely. Additionally, DI may influence the choice of extractions if these are needed as part of orthodontic treatment. Restoration of teeth affected by DI may be required near the end of orthodontic treatment. Additionally, procedures such as orthognathic surgery pose an increased risk due to bone fragility and bleeding diatheses. Complications with general anaesthetic may occur due to malignant hyperthermia or difficulty with intubation as a result of a short neck and deformation of the chest.8 Problems with manual dexterity resulting from hypermobile wrist joints or skeletal deformities may cause difficulties in maintaining good oral hygiene. This should be taken into consideration before decisions about orthodontic treatment are made.

    Conclusions

    This case report shows that osteogenesis imperfecta may be associated with hypodontia as well as other traits of malocclusion. This may have a significant impact on dental health and orthodontic treatment.