orthodontic treatment and maxillary anterior segmental...

Case ReportOrthodontic Treatment and Maxillary Anterior SegmentalDistraction Osteogenesis of a Subject with WilliamsndashBeurenSyndrome and Isolated Cleft Palate A Long-Term Follow-Upfrom the Age of 5 to 24 Years

Tetsutaro Yamaguchi1 Tatsuo Shirota2 Mohamed Adel1

Masahiro Takahashi1 Shugo Haga1 Ryo Nagahama1 Misato Nakashima1

Mayu Furuhata1 Takaaki Kamatani2 and Koutaro Maki1

1Department of Orthodontics School of Dentistry Showa University 2-1-1 Kitasenzoku Ohta-ku Tokyo 145-8515 Japan2Department of Oral and Maxillofacial Surgery School of Dentistry Showa University 2-1-1 Kitasenzoku Ohta-kuTokyo 145-8515 Japan

Correspondence should be addressed to Tetsutaro Yamaguchi tyamaguchidentshowa-uacjp

Received 15 March 2017 Accepted 15 May 2017 Published 4 July 2017

Academic Editor Khalid H Zawawi

Copyright copy 2017 Tetsutaro Yamaguchi et al This is an open access article distributed under the Creative Commons AttributionLicense which permits unrestricted use distribution and reproduction in any medium provided the original work is properlycited

WilliamsndashBeuren syndrome (WBS) is a rare multisystem disorder caused by a hemizygous deletion of the elastin gene onchromosome 7q1123 WBS patients have characteristic skeletal features and dental anomalies accompanied by mental retardationa friendly outgoing personality andmild tomoderate intellectual disability or learning problems In this case report we present thecombined orthodontic and surgical treatment of aWBS patient with an isolated cleft palate through a long-term follow-up from theage of 5 to 24 years During the period of active treatment comprehensive orthodontic treatment combined withmaxillary anteriorsegmental distraction osteogenesis and prosthetic treatment using dental implants were effective in dramatically improving thepatientrsquos malocclusion The patientrsquos mental abilities and the cooperation shown by the patient and her family were crucial for thesuccess of this complex and long-term treatment course

1 Introduction

WilliamsndashBeuren syndrome (WBS) is a rare multisystemdisorder caused by a hemizygous deletion of the elastin geneon chromosome 7q1123 [1] In 1961 Williams et al were thefirst to draw attention to the syndrome with a cardiologyreport describing a condition with a distinctive range ofsymptoms including supravalvular aortic stenosis mentalretardation and dysmorphic facial features Several yearslater Beuren et al described the syndrome independentlyand suggested that this condition has dental anomalies as aconsistent component [2 3] WBS is estimated to affect onein 20000 individuals with equal prevalence in males andfemales [4]

WBS is characterized by mental and growth retarda-tion a friendly outgoing personality and mild to moderate

intellectual disability or learning problems Individuals withWBS have distinctive facial features and heart and bloodvessel (cardiovascular) problems [4 5] The typical dysmor-phic facial features of WBS are considered to be diagnosticof patients with WBS and include soft tissue and skeletalcomponents Patients with WBS usually have full prominentcheeks a full nasal tip a wide mouth a long philtrum andfull lips These facial features are summarized in the termldquoelfin facerdquo [1 5] Four skeletal features contribute to thisunique facial appearance a short cranial base a steep angleof the mandibular plane unusual proportions of the upperto lower anterior facial height and the posterior to anteriorfacial height and a deficient chin although the mandibleis not classified as retrognathic [6] Dental abnormalitiesof WBS include microdontia hypodontia abnormal incisormorphology tongue thrusting excessive interdental spacing

HindawiCase Reports in DentistryVolume 2017 Article ID 7019045 8 pageshttpsdoiorg10115520177019045

2 Case Reports in Dentistry

(a) (b)

(c) (d)

Figure 1 Pretreatment photographs (5 years and 1 month) (a) Extraoral photographs (b) Intraoral photographs (c) Orthopantomograms(d) Posteroanterior and lateral cephalograms

a higher prevalence of Class II and Class III occlusion openand deep bites and anterior crossbite [7] Cleft palate hasnever been considered part of the WBS syndrome but thecondition has been little investigated [8]

This case report presents the long-term orthodonticfollow-up and treatment of a female patient with WBS andan isolated cleft palate from the age of 5 to 24 years

2 Case Presentation

A female patient with a chronological age of 5 years and1 month at the time of the first examination presented atthe Department of Orthodontics Showa University DentalHospital with a chief complaint of amasticatory disorderThemedical history revealed that the patient had hypercalcemiaa ventricular septum defect and mental disability and hadundergone cleft palate closure surgery at the age of 1 year and6 months

21 Clinical Examination On extraoral clinical examinationthe patient was found to have an ldquoelfin facerdquo appearance witha small nose long philtrum prominent lips and zygomatic

flattening all of which are distinctive to WBS (Figure 1(a))Intraorally the patient had an anterior crossbite and a deepoverbite (Figure 1(b)) Pretreatment radiographs includedlateral and posteroanterior (PA) cephalograms and orthopan-tomograms (OPGs) (Figures 1(c) and 1(d))TheOPG showedthat the bilateral maxillary second premolars and the bilateralmandibular first and second premolars were congenitallyabsent (Figure 1(c))

22 Facial Protraction Stage At the age of 9 years and 4months the patient was reexamined clinically and radio-graphically Intraoral examination showed that the overjetwas minus120mm and the overbite was +30mm (Figure 2)Cephalometric examination (Table 1) revealed a skeletal ClassIII relationship (ANB minus50∘) To reduce the severe anteriorcrossbite facemask therapy was initiated at the age of 11 yearsand continued for 1 year and 9monthsThereafter the patientwas regularly followed up three times each year until the nextstage of treatment (Figure 3)

23 Treatment Plan After the monthly meeting with theDepartment of Oral and Maxillofacial Surgery Showa

Case Reports in Dentistry 3

Table 1 Cephalometric analysis at various stages of treatment

Initial Before face masktreatment

After face masktreatment Before MASDO Retention

2 years and 8months afterdebonding

September1995 July 1999 April 2003 October 2008 August 2012 April 2015

Angular (∘)SNA 827 815 846 849 893 877SNB 852 864 865 889 878 864ANB minus26 minus5 minus12 minus39 15 13Mp-FH 418 371 375 341 341 346Gonial angle 1385 1364 1297 1268 1283 1297U1-FH 926 999 1176 1146 123 1268L1-Mp 72 646 874 762 746 761Facial angle 822 876 878 926 921 904Convexity minus4 minus75 minus43 minus68 35 37A-B plane 35 73 18 51 minus15 minus1119910-axis 683 637 657 628 631 645

Linear (mm)N-S 516 56 588 584 584 586N-Me 907 1006 1157 1202 1217 1235N-ANS 377 421 499 513 485 504ANS-Me 534 587 663 694 752 747S1015840-Ptm1015840 239 262 304 268 286 263A1015840-Ptm1015840 31 354 348 375 324 358Gn-Cd 859 944 1077 1147 1143 1145Pog1015840-Go 557 612 725 756 739 729Cd-Go 383 412 484 528 535 548

MASDO maxillary anterior segmental distraction osteogenesis

Figure 2 Intraoral photographs before the facemask treatment (9years and 4 months)

University Dental Hospital maxillary anterior segmentaldistraction osteogenesis (MASDO) with predistraction andpostdistraction orthodontics was planned The objective of

Figure 3 Intraoral photographs during the observation period andafter the facemask treatment (13 years and 1 month)

the treatment was to improve the facial esthetics of thepatient and to establish an occlusion that allowed for normalfunction


Figure 4 Intraoral photographs during predistraction orthodontictreatment

24 Predistraction Orthodontics Stage At the age of 16 yearsand 7 months intraoral examination revealed a Class IIImolar relationship an overjet of minus7 mm and severe anteriorcrowding Cephalometric examination revealed a skeletalClass III relationship (ANB minus39∘) with excessive lingualinclination of the lower incisors (Table 1) Predistractionorthodontic treatment was commenced in both archesusing 0018-inch slot preadjusted edgewise appliances Thistreatment was continued for 1 year and 11 months andwas carried out in a manner similar to the preparationfor conventional orthognathic surgery for an Angle ClassIII occlusal relationship This included coordination of thearches decompensation of the anterior dentition and level-ing and alignment Because of the severe anterior crowdingin the upper arch the orthodontic treatment was confinedto the posterior segment to prepare the dentition for theuse of the intraoral appliance required for the distractionAfter leveling of the lower arch a utility arch made of0016 times 0016-inch stainless steel wire was fitted to initiateintrusion of the lower incisors and minimize the overbite(Figure 4)

25 Distraction Osteogenesis Stage After completion of thepredistraction orthodontics impressions were taken of theupper and lower arches (Figure 5) A maxillary biteplate (dis-tractor) was constructed to cover the occlusal surfaces of theposterior teeth and extend anteriorly to the lateral incisorsThe distractor was 20mm thick in the posterior region Ahorizontal cut was made in the acrylic between the firstpremolar and first molar areas An expansion screw orientedanteroposteriorly with an opening capacity of 150mm wasinserted into the plate (Figure 6(a)) At the age of 18 yearsand 6 months the MASDO was carried out The surgicalapproach for distraction was similar to a Le Fort 1 osteotomyA circumvestibular flapwas raised a complete osteotomywasperformed and themaxilla was then downfracturedThe flapwas then closed primarily and the distractor was cementedto the teeth (Figure 6(b)) After a latency period of 7 daysthe distraction was initiated by turning the screw twice a day(05mmd) until adequate forward movement was obtained

The consolidation period took 6 months after which thedistractor was removed

26 Postdistraction Orthodontics Stage After the consoli-dation period the distracted anterior segment was stableand neither the teeth nor the soft tissue showed any signsof complications The distractor was removed and a Nanceappliance was placed so that postdistraction orthodontictreatment could resume (Figure 7) The goal of the treatmentwas to achieve an ideal occlusion concerning the canineclass molar class overbite overjet and coincident dentalmidline A sectional 0016 times 0016-inch stainless steel wirewas placed in the posterior segment to allow the retractionof the premolar into the space created by the distraction pro-cess After completion of the premolar retraction completeleveling of the maxillary teeth closure of the residual spacesand coordination of the arches were carried out Before theend of the treatment the lower wisdom teeth were extractedThereafter the fixed appliance was removed at the age of 22years and 1 month and Hawley type retainers were fittedin the upper and lower arches Prosthetic treatment of thearea corresponding to the bilateral mandibular premolarswas completed using dental implants and observation of thepatientrsquos condition has continued (Figure 8)

3 Discussion

Combined surgical and orthodontic treatment typicallyenhances facial esthetics and improves functional occlusionSuch changes have a positive effect on the patientrsquos qualityof life Orthodontic treatment planning for patients withWBS requires special consideration because the patient hasspecific skeletal deformities and dental malformations aswell as distinctive mental and psychological behavior Inthe present report the patient had six permanent teethcongenitally absent and an isolated cleft palate which isseldom a feature ofWBS [8] MASDO significantly improvedthe anterior crossbite and aided in relieving the crowdingTheprognosis for the prosthetic treatment using dental implantswas favorable

The literature is inconsistent about the caries rate inchildrenwithWBSHowever the dental treatment of patientswith WBS depends basically on their cooperation Sedationmay be helpful in the younger age group to reduce anxietyand uncooperative behavior during treatment for minimalcaries However treatment under general anesthesia is usu-ally complicated by the medically compromised conditionsaccompanying WBS [9] Few case reports of orthodontictreatment in WBS can be found in the literature whichcould be attributed to the varying degree of cooperationprovided by the patient and family in response to orthodontictreatment Vieira et al [10] reported a case of a patient withWBS who received orthodontic treatment with satisfyingresults The patient received orthopedic expansion of themaxilla in which a modified facial mask was used to protractthe maxillary complex associated with clockwise rotation ofthe maxilla They also concluded that there are alternativeways to manage syndromic patients effectively dependingon the degree of cooperation from the patient and family


(a) (b)

Figure 5 Facial (a) and oral (b) photographs before maxillary anterior segmental distraction osteogenesis (18 years and 6 months)

(a) (b)

Figure 6 Maxillary anterior segmental distraction osteogenesis (MASDO) (a) Distractor (b) The numbers indicate the order of theprocedures

as well as the direction and magnitude of facial growthFortunately our patientrsquos mental disability was not severeand enough family cooperation was provided Therefore afavorable treatment result could be achieved although long-term and complicated treatment procedures were carriedout

In addition to oral and facial characteristics WBS pa-tients may present with microdontia generalized diastemasanodontia caries enamel hypoplasia dental malocclusionatypical deglutition and counterclockwise rotation of themaxilla accompanied by a retruded mandible [10] Thepresent case had a Class III malocclusion associated with acleft palate and dental agenesis Although the treatment timeextended from the age of 5 to 24 years almost no cariouslesions were detected during the treatment Additionally

there were no signs of enamel hypoplasia or atypical deglu-tition

The cephalometric features of WBS often include ananterior inclination of the maxilla a high mandibular planeangle and a deficient bony chin [11] In our case the cephalo-metric analysis revealed severe counterclockwise rotation ofthe maxilla accompanied by a retruded mandible Parfschet al [12] studied the growth data of 244 German childrenwith WBS They found that girls with WBS were dividedinto two groups an early puberty group and a late pubertygroup Unfortunately we did not record body height data forthis patient so we have no information about her growthrate but she could have had a premature and abbreviatedpubertal growth spurt Superimposed cephalometric tracingsat pretreatment and posttreatment of the facemask therapy


(a) (b)

Figure 7 Facial (a) and oral (b) photographs after the consolidation period (19 years)

(a) (b)

(c) (d)

Figure 8 Extraoral and intraoral photographs at 2 years and 8 months after debonding (24 years and 9 months) (a) Extraoral photographs(b) Intraoral photographs (c) Orthopantomograms (d) Posteroanterior and lateral cephalograms

suggest that the patient experienced late maxillary growth(Figure 9 Table 1) Because of the presence of variousoral and maxillofacial features in patients with WBS mostcases require an interdisciplinary treatment approach Earlydetermination of treatment objectives and the timing of

interdisciplinary strategies are important factors for adequatemanagement [11]

The MASDO procedure has been used as an alternativetreatment option for patients with severemidfacial deficiency[13ndash15] Furthermore MASDO is effective in increasing


(a) (b)

Figure 9 (a) Superimposed cephalometric tracing at pretreatment (solid line) and posttreatment (dotted line) of facemask therapy (b)Superimposed cephalometric tracing at pretreatment (solid line) and posttreatment (dotted line) of MASDO

alveolar arch length and correcting anterior crossbite inpatients with a cleft lip and palate [13 14 16] An advantageof MASDO is that there is no risk of deterioration ofvelopharyngeal function this is an occasional complicationof a conventional maxillary advancement surgical proce-dure Severe anterior crowding in the upper arch is usuallyrelieved by therapeutic extraction of teeth Tooth extractionwas not appropriate in our case because multiple teethwere congenitally missing MASDO successfully providedthe required maxillary alveolar arch length allowing themaxillary anterior teeth to be properly aligned

4 Conclusion

Complex and individualized treatment planning is requiredfor WBS patients because they exhibit specific skeletaldeformities and dental malformations Special considerationmust be given to the degree of cooperation shown by thepatient and the family as well as the patientrsquos mental andpsychological behavior as these are critical factors duringtreatment

Consent

Written informed consent was obtained from the patient forthe publication of this case report and accompanying images

Conflicts of Interest

The authors declare that there are no conflicts of interestregarding the publication of this paper

References

[1] K Habersack B Grimaldi and G W Paulus ldquoOrthodontie-Orthognathie surgical treatment of a subject with Williams-Beuren syndrome-a follow-up from 8 to 25 years of agerdquo

European Journal of Orthodontics vol 29 no 4 pp 332ndash3372007

[2] C A Morris ldquoIntroduction Williams syndromerdquo AmericanJournal ofMedical Genetics Part C Seminars inMedical Geneticsvol 154C no 2 pp 203ndash208 2010

[3] A J Beuren C Schulze P Eberle D Harmjanz and J ApitzldquoThe syndrome of supravalvular aortic stenosis peripheralpulmonary stenosis mental retardation and similar facialappearancerdquoThe American Journal of Cardiology vol 13 no 4pp 471ndash483 1964

[4] F Dutly and A Schinzel ldquoUnequal interchromosomal rear-rangements may result in elastin gene deletions causing theWilliams-Beuren syndromerdquoHumanMolecular Genetics vol 5no 12 pp 1893ndash1898 1996

[5] C A Morris S A Demsey C O Leonard C Dilts and BL Blackburn ldquoNatural history of Williams syndrome PhysicalcharacteristicsrdquoThe Journal of Pediatrics vol 113 no 2 pp 318ndash326 1988

[6] P Poornima P S Patil V V Subbareddy and G Arora ldquoDento-facial characteristics in Williamrsquos syndromerdquo ContemporaryClinical Dentistry vol 3 supplement 1 pp S41ndashS44 2012

[7] J Hertzberg L Nakisbendi H L Needleman and B PoberldquoWilliams syndromendashoral presentation of 45 casesrdquo Pediatricdentistry vol 16 no 4 pp 262ndash267 1994

[8] A Giulia S Domenico C Orlando F F Graziana and P PapildquoCleft palate in Williams syndromerdquo Annals of MaxillofacialSurgery vol 3 no 1 p 84 2013

[9] M Moskovitz D Brener S Faibis and B Peretz ldquoMedicalconsiderations in dental treatment of children with Williamssyndromerdquo Oral Surgery Oral Medicine Oral Pathology OralRadiology and Endodontology vol 99 no 5 pp 573ndash580 2005

[10] G M Vieira E J Franco D F P da Rocha L A de Oliveiraand R F B Amorim ldquoAlternative treatment for open bite ClassIII malocclusion in a child with Williams-Beuren syndromerdquoDental Press Journal of Orthodontics vol 20 no 1 pp 97ndash1072015

[11] S Axelsson Variability of the cranial and dental phenotype inWilliams syndrome Swed Dent J Suppl 170 3-67 2005


[12] C-J Parfsch G Dreyer A Gosch et al ldquoLongitudinal evalua-tion of growth puberty and bone maturation in children withWilliams syndromerdquo Journal of Pediatrics vol 134 no 1 pp 82ndash89 1999

[13] E J Liou P K Chen C S Huang and Y R Chen ldquoInterdentaldistraction osteogenesis and rapid orthodontic tooth move-ment a novel approach to approximate a wide alveolar cleft orbony defectrdquo Plastic amp Reconstructive Surgery vol 105 no 4 pp1262ndash1272 2000

[14] H-Y Choi C-J Hwang H-J Kim H-S Yu and J-Y ChaldquoMaxillary anterior segmental distraction osteogenesis with 2different types of distractorsrdquo Journal of Craniofacial Surgeryvol 23 no 3 pp 706ndash711 2012

[15] K Hirata C Tanikawa T Aikawa et al ldquoAsymmetric anteriordistraction for transversely distorted maxilla and midfacialanteroposterior deficiency in a patientwith cleft lippalate Two-stage surgical approachrdquo Cleft Palate-Craniofacial Journal vol53 no 4 pp 491ndash498 2016

[16] A C-K Tong B S-W Yan and T C-K Chan ldquoUse of inter-dental distraction osteogenesis for orthodontic tooth alignmentand correction of maxillary hypoplasia A case reportrdquo BritishJournal of Oral and Maxillofacial Surgery vol 41 no 3 pp 185ndash187 2003

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(a) (b)

(c) (d)

Figure 1 Pretreatment photographs (5 years and 1 month) (a) Extraoral photographs (b) Intraoral photographs (c) Orthopantomograms(d) Posteroanterior and lateral cephalograms

a higher prevalence of Class II and Class III occlusion openand deep bites and anterior crossbite [7] Cleft palate hasnever been considered part of the WBS syndrome but thecondition has been little investigated [8]

This case report presents the long-term orthodonticfollow-up and treatment of a female patient with WBS andan isolated cleft palate from the age of 5 to 24 years

2 Case Presentation

A female patient with a chronological age of 5 years and1 month at the time of the first examination presented atthe Department of Orthodontics Showa University DentalHospital with a chief complaint of amasticatory disorderThemedical history revealed that the patient had hypercalcemiaa ventricular septum defect and mental disability and hadundergone cleft palate closure surgery at the age of 1 year and6 months

21 Clinical Examination On extraoral clinical examinationthe patient was found to have an ldquoelfin facerdquo appearance witha small nose long philtrum prominent lips and zygomatic

flattening all of which are distinctive to WBS (Figure 1(a))Intraorally the patient had an anterior crossbite and a deepoverbite (Figure 1(b)) Pretreatment radiographs includedlateral and posteroanterior (PA) cephalograms and orthopan-tomograms (OPGs) (Figures 1(c) and 1(d))TheOPG showedthat the bilateral maxillary second premolars and the bilateralmandibular first and second premolars were congenitallyabsent (Figure 1(c))

22 Facial Protraction Stage At the age of 9 years and 4months the patient was reexamined clinically and radio-graphically Intraoral examination showed that the overjetwas minus120mm and the overbite was +30mm (Figure 2)Cephalometric examination (Table 1) revealed a skeletal ClassIII relationship (ANB minus50∘) To reduce the severe anteriorcrossbite facemask therapy was initiated at the age of 11 yearsand continued for 1 year and 9monthsThereafter the patientwas regularly followed up three times each year until the nextstage of treatment (Figure 3)

23 Treatment Plan After the monthly meeting with theDepartment of Oral and Maxillofacial Surgery Showa




















3 Discussion




(a) (b)


(a) (b)







(a) (b)


(a) (b)

(c) (d)






(a) (b)



4 Conclusion


Consent




References


























Biomaterials












Journal of






































3 Discussion




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4 Conclusion


Consent




References


























Biomaterials












Journal of




















(a) (b)


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(c) (d)






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4 Conclusion


Consent




References


























Biomaterials












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(c) (d)






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4 Conclusion


Consent




References


























Biomaterials












Journal of




















(a) (b)



4 Conclusion


Consent




References


























Biomaterials












Journal of
































Biomaterials












Journal of



















orthodontic treatment and maxillary anterior segmental...

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