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Dental Management of 49,XXXXY Syndrome with Taurodontism: a Case Report

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Dental Management of 49,XXXXY Syndrome with Taurodontism: a Case Report PEDIATRIC DENTAL JOURNAL 19(2): 262–266, 2009 Case Report Dental management of 49,XXXXY syndrome with taurodontism: A case report Hiroe Kodaira, Kohachiro Ohno, Masamichi Ide, Shiki Adachi and Yoshinobu Asada Department of Pediatric Dentistry, Tsurumi University School of Dental Medicine 2-1-3 Tsurumi, Tsurumi-ku, Yokohama 230-8501, JAPAN Abstract A Japanese male with a karyotype of 49,XXXXY was presented Key words for dental treatments from 6 years to 20 years of age. The patient had pulmonary 49,XXXXY syndrome, stenosis as well as mental retardation, hypogonadism, fifth finger and toe Dental management, clinodactyly, genu valgus, pes cavus and mandibular prognathism. Dental Prophylactic antibiotic coverage, manifestations revealed multiple caries and taurodontism of both primary and growth and development, permanent dentitions and hypodontia in permanent dentition. Dental manage- Taurodontism ment of a patient with 49,XXXXY syndrome is important to accomplish both controlling behavioral problems and medical considerations for preventing infective endocarditis. Introduction Case Report 49,XXXXY syndrome is a very rare sex chromosome In April 1994, a 6-year and 10-month-old Japanese abnormality with an approximate incidence of 1 in boy, with health problems, was referred to the pedi- 85,000–100,000 male births1). Since Fraccaro et al.2) atric dental clinic at the Tsurumi University Dental first described on a case of child with this karyotype, Hospital presenting dental pain associated with the over 100 cases of 49,XXXXY syndrome have been mandibular primary molars. The patient was born at reported to date3). The classic clinical findings reported 37 weeks gestation by Cesarean section. At birth, in the literature1–4) are radioulnar synostosis, mental his weight was 2,090 g and his height was 43.5 cm. retardation and hypogonadism. Other features include He had been indicated with a karyotype of 49 severely impaired speech, behavioral problems, short chromosomes and X-chromosomal aneuploidy and stature, coarse face in older age, congenital heart pulmonary stenosis in the examination at birth. He defect (especially patent duct arteriosus) and skel- began walking late at 3 years of age, and it became etal anomalies: genu valgus, pes cavus, fifth finger obvious that physical and intellectual development clinodactyly, muscular hypotonia. was also late and deficient. Dentofacial manifestations include taurodontism, At first visit, he was not able to speak to a dental shovel-shaped incisor, prognathism and hypodontia staff, but seemed to catch their speech. Physical in permanent dentition5–10). examination revealed bilateral fifth finger and toe This article describes dental managements of clinodactyly and his gait was unsteady. Clinical and the 49,XXXXY syndrome with taurodontism and radiographic examination of the dentition revealed evaluates the degrees of taurodontism by calculating extensive caries, especially deep carious lesions Taurodontism Index (TI) reported by Keene11). of the mandibular primary molars that cause his complaint of occasional dental pain. Periapical radiographs revealed taurodontism in the mandibular Received on June 9, 2009 primary molars, and the maxillary molars showed Accepted on August 21, 2009 same features (Fig. 1). His upper and lower primary 262 Dental ManaGEMent oF 49,XXXXY SyndroME WITH taurodontiSM 263 Fig. 3 Facial photos at 12 years and 11 months of age Fig. 1 Full mouth X-ray photos at first visit. Mandibular primary molars revealed taurodontism. Second visit was at 12 years and 11 months of age with a complaint of decayed teeth. His height was 133 cm and body weight was 29.5 kg (standard of the same age in Japanese boy: 155.6 cm and 44.1 kg, respectively). He could talk with the dental staffs. Facial appearances showed orbital hypertelorism (4.0 cm), epicanthal fold, internal strabismus, saddle nose, bilateral abnormality of auricles and progna- thism, but no upslanting palpebral fissures (Fig. 3). Clinical and panoramic radiographic examination of the dentition revealed multiple caries, shovel- shaped upper central incisors, small peg lateral incisors, transposition between upper left canine and bicuspid, and taurodontic teeth (permanent upper both first molars and second molars, permanent lower left first molar and second molar, permanent lower right first molar), and agenesis of permanent lower left second premolar and permanent lower right second molar (Fig. 4). Fig. 2 Chromosomal analysis results a karyotype of 49,XXXXY. Composite resin restorations, chromium-nickel Extra three X chromosomes show with arrows. crowns, endodontic treatments, tooth extractions and a dental prophylaxis were provided. The patient was cooperative and tolerated dental treatments well, but endodontic procedures of tauro- incisors was in cross-bite relationship. dont teeth were challenging technically because the Dental treatments were performed under pro- teeth had large pulp chambers and their furcations phylactic antibiotic administration according to the positioned near apical regions. American Heart Association guidelines to prevent Cephalometric analysis revealed a skeletal mesio- infective endocarditis. Access cavity preparations of occlusion due to a long corpus mandibula and a the lower primary molars were performed under forward rotation of the mandible (Fig. 5). Orthodontic local anesthesia by using tell, show, do method (TSD treatment did not performed, because the patient method). The patient seemed relatively cooperative. refused it. In compliance with the wishes of the patient’s Last visit was at 18 years and 1 month of age mother and with his consent, a 10 mL blood sample with a complaint of tooth fracture. Three primary was drawn from vein for karyotyping. All of 20 cells teeth (primary upper right canine, primary lower counted had 49,XXXXY chromosomes (Fig. 2). both second molars) have been retained and 23 264 Kodaira, H., Ohno, K., Ide, M. et al. Fig. 4 Panorama X-ray photo at 12 years and 11 months of age. ( ); uneruptived. Fig. 6 Panorama X-ray photo at 20 years of age. Endodontic treatments in taurodont teeth succeeded in general. Fig. 5 Facial diagram at 12 years and 11 months of age. (Dotted line: this case, Solid line: standard) permanent teeth existed in oral cavity. By visual and periapical radiographic examination, the fractured Fig. 7 Diagram shows method of measuring the two variables tooth (permanent upper left canine) was extracted as (Y, Z). conservative treatment was impossible. We lasted Y is the vertical height of the chamber (distance from lowest this patient’s dental management to 20 years of age part of roof to highest level of floor of pulp chamber), and Z is (Fig. 6). the distance from the lowest part of roof of pulp chamber to the apex of longest root. Taurodontism Index (TI)=Y/Z×100. Classification on the degree of taurodontism By calculating TI, the degree of taurodontism is classified in three types (25.0–49.9: hypo-, 50.0–74.9: meso-, 75.0–100.0: A periapical radiograph of the affected tooth was hyper-taurodontism)11) Dental ManaGEMent oF 49,XXXXY SyndroME WITH taurodontiSM 265 Table 1 The degree of taurodontism of each molar measured Tooth TI Classification Tooth TI Classification 17 84.6 hyper- 55 40.0 hypo- 16 84.6 hyper- 54 23.8 non 26 66.6 hyper- 64 17.3 non 27 84.1 hyper- 65 39.9 hypo- 36 76.2 hyper- 75 40.2 hypo- 37 79.8 hyper- 74 40.0 hypo- 46 62.6 meso- 84 38.9 hypo- 85 33.6 hypo- traced and the two variables on the tracing film was no simple association of the degree of tauro- were measured as showing a diagram (Fig. 7). And dontism and the number of X chromosomes, but in the taurodontism index (TI) was calculated by the general, patients with more sever forms of the trait formula reported by Keene11). The degree of tauro- — meso- or hyper-taurodontism — were more likely dontism by TI was classified three types: hypo-, to have X-chromosome aneuploidy. Varrela et al.13) meso- or hyper-taurodontism. indicated that there was positive correlation between The results of measurements of primary and the degree of taurodontism and the number of X permanent molars show in Table 1. chromosomes. In the present case, primary and permanent molars revealed hypo-, meso- or hyper- Discussion taurodontism except primary upper first molars. Other features were shovel-shaped upper central The majority of case reports cases have not distin- incisors, as Gardner et al.12) described same manifes- guished the 49,XXXXY syndrome from Klinefelter tations, and congenital absence of permanent tooth syndrome (47,XXY), and these patients are frequently germs as described in few cases7,9). Transposition labelled as having Klinefelter syndrome or as being between upper left canine and bicuspid was first a “Klinefelter variant”. However, today, it has been original finding that had never reported. recognized that the 49,XXXXY syndrome has its Endodontic treatment of taurodont tooth was own phenotype, and genotype and is not Klinefelter challenging, because it requires special care in syndrome, as Peet et al.4) delineated the 49,XXXXY handling and identifying the orifices of root canals. syndrome was different from Klinefelter syndrome Some authors have described successful completion because of its distinct clinical features, especially in endodontic treatment of taurodont tooth13–15). We the prevalence of congenital heart defects. also succeeded its treatments, but might manage In the present case, the patient had pulmonary more easily if could have complete caries treatments stenosis as well as mental retardation, hypogonadism, in more early. short stature, genu valgus, muscular hypotonia, fifth finger and toe clinodactyly, orbital hypertelorism, Conclusion saddle nose, and abnormality of auricles, but no radioulnar synostosis. Dental management of a patient with 49,XXXXY Facial appearance revealed a coarse face with syndrome is important to accomplish both control- mandibular prognathism, but without eyes slanting ling behavior problems and medical considerations upward as found in Down’s syndrome that Gorlin for preventing infective endocarditis as well as to et al.3) had described.
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