Med Buccale Chir Buccale
Volume 23, Number 3, October 2017
|Page(s)||146 - 151|
|Section||Cas clinique et revue de la littérature / Up-to date review and case report|
|Published online||24 November 2017|
Up-to date Review and Case Report
Management of a patient with osteogenesis imperfecta and trisomy 18
Interne des Hôpitaux de Paris − DES Médecine Bucco-dentaire, Hôpital Albert Chenevier,
2 Docteur en Chirurgie Dentaire, Ancien Interne des Hôpitaux de Paris − DES Chirurgie Orale, Créteil, France
3 Docteur en Chirurgie Dentaire, Maitre des Conférences des Universités, Faculté de Chirurgie Dentaire Paris Descartes, Praticien Hospitalier, Assistance Publique − Hôpitaux de Paris, Chef de Service de l'Hôpital Albert Chenevier, Créteil, France
4 Docteur en Chirurgie Dentaire, Praticien Hospitalier, Assistance Publique − Hôpitaux de Paris, Ancien Assistant Hospitalo-Universitaire, Faculté de Chirurgie Dentaire Paris, Descartes, Hôpital Albert Chenevier, Créteil, France
* Corresponding author: email@example.com
Accepted: 10 October 2016
Trisomy 18 and osteogenesis imperfecta are serious diseases with multiple systemic complications. Osteogenesis imperfecta is usually associated with dentinogenesis imperfecta. Observation: A young woman consulted for dental care, with the family suspecting multiple caries because of yellow spots on her teeth. Medical history revealed trisomy 18 associated with osteogenesis imperfecta. The patient was quite uncooperative, even with tooth brushing at home. We provided care after the completion of clinical and radiographic examinations. The colorations were due to amelogenesis imperfecta. Discussion: The association between osteogenesis imperfecta and amelogenesis imperfecta has not been described in the literature. Moreover, the presence of an extra abnormality in tooth structure was a delicate situation for the family. This case suggests the link between amelogenesis imperfecta and osteogenesis imperfecta. Conclusion: This case is the first description of the association of amelogenesis imperfecta and osteogenesis imperfecta.
Key words: trisomy 18 / osteogenesis imperfecta / amelogenesis imperfecta / dentinogenesis imperfecta / dental care
© The authors, 2017
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
The association of trisomy 18 and osteogenesis imperfecta is rare. Osteogenesis imperfecta (OI) is a type of hereditary congenital osteoporosis, characterized by bone fragility and low bone mass, and is linked to a mutation in the gene encoding type-I collagen . Although the prevalence of this disease is not known with certainty, it is estimated that 3000–6000 individuals in France are affected, which is approximately 1 in every 10 000 inhabitants. The condition affects both genders and all ethnic groups [1,2]. Functional prognosis depends on the severity of the condition and support: administration of bisphosphonates has modified the functional impact of the disease, especially in growing children. Survival is strongly linked to respiratory impairment. Sillence reported a classification in 1979 , in which OI patients are classified into 4 categories: light form (type I), unviable form (type II), the most severe viable form (type III), and an intermediate form between types I and III (type IV). Glorieux has refined this classification  by subclassifying type IV into types V, VI, and VII, dividing patients according to well-defined clinical and histological characteristics (Tab. I). The OI-associated oral manifestations most often found are Angle class III, infraocclusion and crossbite. Dental abnormalities in the number and position are also reported in the literature, as well as eruptive delays [4,5] (Tab. II). Amelogenesis imperfecta has never been reported in association with OI. Trisomy 18 or Edward's syndrome, which was first described in 1960 , is the second most common trisomy after trisomy 21. Its prevalence is estimated at 1 out of 6000–8000 births, but is actually higher because of the high rate of fetal mortality and abortion following prenatal diagnosis. The risk of occurrence increases with the age of the mother, but the risk of recurrence within the same family is very low (approximately 1%) [7,8] (Tab. III). Amelogenesis imperfecta is not part of the clinical picture of trisomy 18. We report a rare case of a patient with amelogenesis imperfecta associated with trisomy 18.
Physiopathology, manifestations, diagnosis and management of OI III and trisomy 18 (source author).
A 20-year-old patient living with her parents consulted the dentistry department of Albert Chenevier hospital, in Créteil, along with her younger sister (support person). Anamnesis revealed the presence of type-III OI as well as trisomy 18. The patient was currently receiving sodium alginate (Gaviscon®), vitamin supplementation, and oral contraceptive agents. The reason for consultation was twofold: dental pain, located on the left maxillary semiarch, and multiple tooth stains. With regard to the periodontal condition, the patient had severe gingival inflammation associated with a significant amount of plaque and tartar on the day of consultation (Fig. 1). The patient was in the phase of establishing young adult dentition with teeth 17 and 27 being partially below the mucous membrane. Tooth 26 was not visible, tooth 23 was absent, and tooth 63 was persistent on the arcade. Crossbite as well as an infraocclusion were observed between sectors 1 and 4; the mandibular interincisal point was offset by 5 mm to the right. An orthopantomogram (OPT) was prescribed (Fig. 2). It confirmed the presence of tooth 23 impacted in the ectopic position between teeth 24 and 25 (Tab. IV). Residual roots were identified at the left maxillary semiarch level in position 26. A cone-beam computed tomography examination was prescribed. It confirmed the presence of left maxillary first molar residual roots associated with periapical X-ray images corresponding to inflammatory lesions of endodontic origin (Fig. 3). The extraction of the roots of tooth 26 was carried out under local anesthesia and conscious sedation by ENEMO at the rate of 12 L/min. With regard to dental coloring, they were brown and chalky white stains. Enamel was porous and with decreased hardness, but normal thickness. The teeth did not present the characteristic opalescence of dentinogenesis imperfecta (DI) classically associated with OI (Figs. 4 and 5). Eventually, amelogenesis imperfecta was diagnosed. No treatment was implemented because the patient was not cooperative.
Clinical perspective: front occlusion (source: author).
Panoramic radiograph of the patient (source: author).
CBCT (sagittal) focused on the roots of 26 (source: author).
Clinical view of 11, 12 and 13.
Clinical view of 41, 42 and 43.
This clinical case is the first report of an amelogenesis imperfecta case associated with OI, in which the latter caused dental abnormalities. The most widely used classification of dental anomalies is that of Shields, dating back to 1973 : it describes the different types of DI and dental dysplasia. DI is classified into three types : type I: associated with OI; type II: the most common, with an autosomal dominant transmission, unassociated with OI transmission; and type III: very rare, reported only in Maryland, in the United States . Type-I DI has an autosomal dominant transmission . Its degree of impact varies  without showing a clear correlation with the nature of the genetic mutation [4,5]. It is more visible in the temporary teeth and is clinically characterized by fragile and crumbly enamel. In affected cases, dentin is quickly exposed and shows attrition. Teeth have a color ranging from amber to bluish grey, associated with an opalescent nature . Impact is less important in the permanent teeth; crowns can be normal, short, globular, abraded, or a combination of these clinical aspects . Nevertheless, frequent enamel fractures and a change in enamel color are observed. Plain radiography shows globular crowns, with marked cervical constriction, short roots, obliteration of the pulp chamber, and a periradicular X-ray image because of early dentin exposure [15,17]. Enamel thickness and mineralization appear normal . In the case of type-III OI, DI is found in 80% cases. However, no clinical or radiographic features characteristic of DI are observed in the patient, whether globular crowns, pulp retraction, periradicular X-ray image, or the opalescent clinical appearance.
The present clinical manifestations (brown/chalky stains, decreased enamel hardness) allowed us to raise several diagnoses: anamnesis revealed no fluorine overdose in childhood, eliminating fluorosis; these stains were present on the incisors and first molars as well as on the canines and premolars which enabled us to exclude the MIH diagnosis. Thus, our diagnosis shifted toward amelogenesis imperfecta. Amelogenesis imperfecta (AI) is a hereditary anomaly of the enamel that affects enamel structure and causes clinical abnormalities in all or almost all teeth, either in isolation or associated with a syndrome . Four types of AI can be distinguished according to Wiktop : hypoplasia (I), hypomaturation (II), hypomineralization (III), and hypomaturation/hypomineralization with taurodontism (IV). We believed the patient had the hypomature form, as the enamel and the dentin did not show the same radio-opacities . There is currently no association between osteogenesis imperfecta and amelogenesis imperfecta in the literature, regardless of the OI or AI type. In the present case, this could be an atypical form of OI, exceptionally associated with a strictly malformation of the enamel; however, it is more likely that the two pathologies were present concomitantly but without causal connection, such as trisomy 18. To confirm our diagnostic hypothesis, we wanted to conduct a genetic analysis aiming to find the characteristic abnormalities of AI. Unfortunately, despite our explanations, the patient's family refused other medical appointments to make a diagnosis that would not influence the treatment.
Abnormalities in tooth coloring associated with OI are not always related to DI. AI has never been described. The present case highlights the need for a diagnosis offered by an oral cavity specialist to differentiate between these two entities.
The authors declare that they have no conflicts of interest in relation to this article.
- Véronique Forin. Ostéogénèse imparfaite [Internet]. Encyclopédie Orphanet − La presse médicale référence, 2007. Available from: www.orpha.net/data/patho/Pro/fr/OsteogeneseImparfaite-FRfrPro654v01.pdf (cited 2015/06/09) [Google Scholar]
- Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol 2008;22: 85–100. [CrossRef] [PubMed] [Google Scholar]
- Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis,nomenclature and severity assessment. Am J Med Genet A 2014;164A:1470–1481. [CrossRef] [PubMed] [Google Scholar]
- 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. [CrossRef] [PubMed] [Google Scholar]
- Bailleul-Forestier I, Berdal A, Vinckier F, de Ravel T, Fryns JP, Verloes A. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. Eur J Med Genet 2008;51:383–408. [CrossRef] [PubMed] [Google Scholar]
- Edwards JH, Harnden DG, Cameron AH, Crosse VM, Wolff OH. A new trisomic syndrome. Lancet Lond Engl 1960;1:787–790. [CrossRef] [Google Scholar]
- Cereda A, Carey JC. The trisomy 18 syndrome. Orphanet J Rare Dis 2012;7:81. [CrossRef] [PubMed] [Google Scholar]
- Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994–2003. Am J Med Genet A 2008;146A:820–826. [CrossRef] [PubMed] [Google Scholar]
- Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet Lond Engl 2004;363:1377–1385. [CrossRef] [Google Scholar]
- Saeves R, Lande Wekre L, Ambjørnsen E, Axelsson S, Nordgarden H, Storhaug K. Oral findings in adults with osteogenesis imperfecta. Spec Care Dent 2009;29:102–108. [CrossRef] [Google Scholar]
- Ortega A de OL, Rosa VLM, Zwir LMLF, Ciamponi AL, Guimarães AS, Alonso LG. Anatomic and dynamic aspects of stomatognathic structures in osteogenesis imperfecta: a case report. Cranio J Craniomandib Pract 2007;25:144–149. [Google Scholar]
- Baty BJ, Jorde LB, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. Am J Med Genet 1994;49:189–194. [CrossRef] [PubMed] [Google Scholar]
- Ettema AM, Wenghoefer M, Hansmann M, Carels CEL, Borstlap WA, Bergé SJ. Prenatal diagnosis of craniomaxillofacial malformations: a characterization of phenotypes in trisomies 13, 18, and 21 by ultrasound and pathology. Cleft Palate-Craniofacial 2010;47:189–196. [CrossRef] [Google Scholar]
- Boyce AM, Tosi LL, Paul SM. Bisphosphonate treatment for children with disabling conditions. PM R 2014;6:427–436. [CrossRef] [PubMed] [Google Scholar]
- Huber MA. Osteogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007;103:314–320. [CrossRef] [PubMed] [Google Scholar]
- Shields ED, Bixler D, el-Kafrawy AM. A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol 1973;18:543–553. [CrossRef] [PubMed] [Google Scholar]
- Rios D, Vieira ALF, Tenuta LMA, Machado MA de AM. Osteogenesis imperfecta and dentinogenesis imperfecta: associated disorders. Quintessence Int Berl Ger 2005;36:695–701. [Google Scholar]
- Crawford PJM, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis 2007;2:17. [CrossRef] [PubMed] [Google Scholar]
- Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1988;17:547–553. [CrossRef] [Google Scholar]
- Piette E, Goldberg M. La dent normale et pathologique. De Boeck Université, 2001,pp. 235–246. [Google Scholar]
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