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CASE REPORT

Orthodontic correction of severe Class II


malocclusion in a patient with
Prader-Willi syndrome
Yoshihito Ishihara,a Yasuyo Sugawara,a Ei Ei Hsu Hlaing,b Miho Nasu,b Tomoki Kataoka,b Naoya Odagaki,b
Teruko Takano-Yamamoto,c Takashi Yamashiro,d and Hiroshi Kamiokab
Okayama, Sendai, and Suita, Japan

Prader-Willi syndrome (PWS) is a complex disorder that affects multiple systems and may cause craniofacial
and dentofacial abnormalities. However, there is still a lack of evidence in the literature regarding the progress
of orthodontic treatment in patients with PWS. This case report describes the successful orthodontic treatment of
a patient with PWS. A girl, 9 years 0 months of age, who had been diagnosed with PWS had protruding maxillary
incisors and a convex profile. Her malocclusion was due to the posteriorly positioned mandible. Screening tests
for sleep apnea syndrome showed that she had sleep-disordered breathing, including obstructive sleep apnea
and bruxism. We also observed an excessive overjet of 10.0 mm, a deep overbite of 6.8 mm, and the congenital
absence of the mandibular second premolars. The patient was diagnosed with an Angle Class II malocclusion
and a skeletal Class II jaw-base relationship with a deep overbite. Functional appliance therapy with mandibular
advancement, which can enlarge the upper airway and increase the upper airspace, was performed to prevent
further deterioration of the patient's obstructive sleep apnea. An acceptable occlusion with a proper facial profile
and functional excursion were achieved without interference after comprehensive 2-stage treatment that incor-
porated orthodontic therapy for the patient's excessive overjet and deep overbite. The resulting occlusion was
stable, and the occlusal force and the contact area gradually increased over a 2-year retention period. These
results suggest that orthodontic treatment offers the opportunity to greatly improve the health and quality of
life of people with PWS. (Am J Orthod Dentofacial Orthop 2018;154:718-32)

P
rader-Willi syndrome (PWS; OMIM 176270) is a by the syndrome.2 In Japan, the estimated prevalence
complex genetic disorder that arises from pater- rate has been reported to be in this range.3,4 Most
nally inherited imprinted genes on the chromo- persons with PWS have neonatal and infantile
some 15q11-q13 region.1 It develops when the hypotonia, obesity, hypogonadism, childhood-onset hy-
paternal alleles are defective, missing, or silenced. The perphagia, a high pain threshold, small hands and feet,
prevalence of PWS is 1 in 10,000 to 30,000 live births, and learning and behavioral problems.1,2 With regard
and 350,000 to 400,000 people in the world are affected to the craniofacial features, PWS is characterized by
short stature—associated with growth hormone
a
(GH) deficiency—almond-shaped eyes with upslanted
Department of Orthodontics, Okayama University Hospital, Okayama, Japan.
b
Department of Orthodontics, Graduate School of Medicine, Dentistry and Phar-
palpebral fissures, bitemporal narrowing, and
maceutical Sciences, Okayama University, Okayama, Japan. strabismus.5 Sleep abnormalities, including narcolepsy
c
Division of Orthodontics and Dentofacial Orthopedics, Graduate School of and cataplexy, are also common features of PWS that
Dentistry, Tohoku University, Sendai, Japan.
d
Department of Orthodontics and Dentofacial Orthopedics, Graduate School of
may be related to narrowing of the upper airway.6
Dentistry, Osaka University, Suita, Japan. Thus, there is a high prevalence of obstructive sleep ap-
All authors have completed and submitted the ICMJE Form for Disclosure of Po- nea (OSA) among PWS patients.7-9 The oral
tential Conflicts of Interest, and none were reported.
Supported in part by Grants-in-Aid for Scientific Research (16K11787) from the
manifestations of PWS have been reported to include
Japan Society for the Promotion of Science. soft tooth enamel, thick saliva, high caries activity,
Address correspondence to: Hiroshi Kamioka, Department of Orthodontics, periodontal disease, and extreme tooth wear caused by
Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical
Sciences, 2-5-1 Shikata-Cho, Kita-ku, Okayama 700-8525, Japan; e-mail,
clenching and bruxism.10
kamioka@md.okayama-u.ac.jp. These features indicate that special precautions should
Submitted, December 2016; revised and accepted, May 2017. be taken when orthodontists treat patients with PWS;
0889-5406/$36.00
Ó 2018 by the American Association of Orthodontists. All rights reserved.
however, there is still little information in the literature
https://doi.org/10.1016/j.ajodo.2017.05.040 regarding the progress of orthodontic treatment in these
718
Ishihara et al 719

Fig 1. Pretreatment records: A, facial photographs; B, intraoral photographs; C, lateral cephalogram;


D, panoramic radiograph.

patients. We report the successful orthodontic treatment mandibular second premolars. This case provides further
of a patient with PWS who had a skeletal Class II malocclu- evidence of the benefits of orthodontic treatment in pa-
sion with a deep overbite and congenitally missing tients with PWS and highlights some functional insights.

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Fig 2. Pretreatment dental casts.

DIAGNOSIS AND ETIOLOGY Prescale & Occluzer; Fujifilm, Tokyo, Japan) (Table I).
A girl, 9 years 0 months of age, visited the outpatient A screening sleep study with a polysomnography
dental clinic of Okayama University Hospital in recorder (Apnomonitor III; Chest M.I., Tokyo, Japan)
Okayama, Japan, with chief complaints of protruding confirmed the airway collapse with decreased oxygen
maxillary incisors and a convex profile (Figs 1 and 2). level and habitual snoring, with arousal from sleep
She had been clinically diagnosed with PWS by a pedia- indicating obstructive sleep apnea (OSA). The
trician. The characteristic facial features of PWS, short apnea-hypopnea index is used to evaluate the severity
stature, small hands and feet, and hyperphagia were of OSA, and an apnea-hypopnea index score of more
observed (Figs 1 and 3).11 She had circumoral muscula- than 5 events per hour of sleep is considered to be
ture strain on lip closure. Her facial photographs showed diagnostic of OSA. According to the American Academy
a symmetrical face, a convex profile, an acute nasolabial of Sleep Medicine, it is categorized as mild (5-15 events),
angle, and protruded and incompetent lips. An excessive moderate (15-30 events), or severe (.30 events). The
overjet of 10.0 mm with Angle Class II molar relation- patient's apnea-hypopnea index score was 9.3 events
ships on both sides and a deep overbite of 6.8 mm per hour, classified as mild OSA.
were observed. The canine relationship was also Class Compared with Japanese norms, the patient's cepha-
II, whereas the incisor relationship was Class II Division lometric analysis showed a skeletal Class II jaw relation-
1. The maxillary dental midline almost coincided with ship due to the relatively posterior position of the
the facial midline; however, the mandibular dental mandible (ANB, 9.2 ; SNA, 76.9 ; SNB, 67.7 ) and a
midline was shifted 3.0 mm toward the left. A dental steep mandibular plane angle (FMA, 34.5 ) (Fig 1, C;
panoramic tomogram confirmed the absence of the Table II).12 The maxillofacial features included reduction
mandibular second premolars and showed no pathologic of the maxilla, the ramus of the mandible, the mandib-
problems in the root structure or the periodontal condi- ular body, and the anterior and posterior facial heights.
tion (Fig 1, D). The patient showed no significant symp- The maxillary and mandibular incisor angles were within
toms of temporomandibular disorder. The interincisal the normal ranges (103.3 and 99.8 , respectively). The
distance on maximal opening without pain was patient's lower facial height ratio was slightly small
39 mm. The occlusal force and the occlusal contact (N-Me, 118.4 mm; Me/PP, 60.2 mm), and the upper
area were calculated to be 564 N and 9.8 mm2, respec- and lower lips protruded against the esthetic E-line (up-
tively, using an occlusal-force recording system (Dental per, 5.0 mm; lower, 5.0 mm). An optoelectronic

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Fig 3. Characteristic features of PWS in our patient included A-C, small hands and feet, and D and E,
longitudinal changes in height and body weight. Bar: 50 mm.

Table I. Longitudinal change in occlusal function during orthodontic treatment


Postretention Postretention Postretention Postretention
Pretreatment Pre-edgewise Posttreatment (1 mo) (3 mo) (6 mo) (2 y)
Occlusal force (N) 564 467 435 426.7 553.1 603.6 657.7
Occlusal contact area (mm2) 9.8 8.3 6.8 7.3 9.8 11.1 12.5
Maximum opening (mm) 39 40.5 39 - - - -

jaw-tracking system (gnathohexagraph system, version the patient's OSA. The second phase of treatment aimed
1.31; Ono Sokki, Kanagawa, Japan), which can record to camouflage the anteroposterior skeletal discrepancy,
jaw movements with 6 degrees of freedom, indicated improve the facial esthetics, correct the deep overbite
that the movement of the mandible and both sides of and the dental midline discrepancy, and create a func-
the condylar heads were not stable during the maximum tional and esthetic occlusion by retracting the maxillary
opening and closing of the jaw.13-15 Irregular patterns of incisors. The maxillary first premolars and mandibular
movement were also observed in a chewing test using a deciduous second molars were extracted to achieve the
hard gummy jelly (Fig 4). treatment objectives. We planned to use combination
headgear and a transpalatal arch (TPA) to achieve
TREATMENT OBJECTIVES maximum anchorage reinforcement because of the
Based on these findings, the patient was diagnosed complexity of the patient's problems—specifically the
with skeletal Class II, Angle Class II malocclusion, high Class II malocclusion with a deep overbite and an exces-
mandibular plane angle with a deep overbite, and sive overjet.
congenitally missing mandibular second premolars. In
the first phase of treatment, a functional appliance TREATMENT ALTERNATIVES
was used to promote growth of the mandible in the an- As the ANB angle increases, a Class II malocclusion
teroposterior and vertical planes, with the expectation becomes more difficult to treat. The alternative treat-
that it would enlarge the upper airway and improve ments for such patients include the use of distraction

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Table II. Summary of cephalometric findings


Variable Japanese norms (woman) SD Pretreatment Preedgewise Posttreatment Postretention
Angular ( )
ANB 2.8 2.44 9.2 6.5 8.0 8.0
SNA 80.8 3.61 76.9 75.5 76.0 76.0
SNB 77.9 4.54 67.7 69.0 68.0 68.0
FMA 30.5 3.60 34.5 33.9 33.7 33.7
UI-FH 112.3 8.26 103.3 103.1 90.6 91.5
LI-Mp 93.4 6.77 99.8 101.9 96.0 96.5
Interincisal angle 123.6 10.64 122.3 121.1 139.7 138.0
Occlusal plane to SN 18.0 3.50 29.8 28.6 30.0 30.0
Gonial angle 122.2 5.29 121.5 120.9 117.2 117.2
Linear (mm)
S-N 67.9 3.65 68.5 71.7 71.8 71.8
N-Me 125.8 5.04 118.4 122.9 127.2 127.2
Me/PP 68.6 3.71 60.2 62.5 66.5 66.5
Go-Me 71.4 4.14 59.4 65.1 67.6 67.6
Ar-Me 106.6 5.74 87.6 93.4 95.9 95.9
Ar-Go 47.3 3.33 38.7 39.7 41.9 41.9
Overjet 3.1 1.07 10.0 6.0 1.5 3.0
Overbite 3.3 1.89 6.8 5.5 2.0 3.5
UI/PP 31.0 2.34 28.7 29.5 28.0 30.0
U6/PP 24.6 2.00 17.4 19.1 20.9 20.9
LI/Mp 44.2 2.68 44.2 44.7 44.5 44.5
L6/Mp 32.9 2.50 32.7 33.9 37.8 37.8
E-line to upper lip -2.5 1.9 5.0 2.0 0 0
E-line to lower lip 0.9 1.9 5.0 2.0 -1.5 -1.5

Fig 4. Pretreatment condylar movement and incisal paths recorded with 6 degrees of freedom jaw
movement recording system: A, opening and closing movements; B, chewing movements. The red
lines indicate the opening phase, and the blue lines indicate the closing phase.

osteogenesis or a combination of comprehensive or- wished to avoid orthognathic surgery because they
thodontic treatment and orthognathic surgery for considered this approach to be too aggressive and
mandibular advancement. The treatment of choice invasive. After a thorough discussion, the patient and
would have been invasive surgery to correct the severe her family decided on the conservative treatment of
skeletal disharmony caused by mandibular hypoplasia mandibular growth modification with orthodontic
and relieve the patient's OSA.16 However, her family camouflage treatment.

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Fig 5. Records at the end of the first phase of treatment: A, facial photographs; B, intraoral photo-
graphs; C, lateral cephalogram; D, posteroanterior cephalogram; E, panoramic radiograph.
TREATMENT PROGRESS patient's susceptibility to caries and periodontal condi-
Klammt's elastic open activator was used to improve tion. Dietary treatment for the prevention of weight
the anteroposterior jaw-base relationship by encour- gain was taught, supervised, and adapted by a pediatri-
aging forward growth of the mandible for 40 months.17 cian.
Simultaneously, a professional mechanical tooth- After the first phase of treatment, the facial photo-
cleaning program, which included the use of a graphs showed a slight forward movement of the
fluoride-containing dentifrice/paste, improved the mandibular position and improvements in the patient's

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Fig 6. Dental casts at the end of the first phase of treatment.

upper and lower lip protrusions (Fig 5). Although the began after the leveling and alignment of the mandibular
excessive overjet and lip protrusion were both reduced arch using nickel-titanium open-coil springs with a force
(Table II), the patient continued to exhibit a of 100 g. After the maxillary canine retraction, a
skeletal Class II and Angle Class II malocclusion on the 0.017 3 0.025-in stainless steel archwire was installed
right side with a deep overbite (Figs 5 and 6). The to intrude the maxillary incisors and induce closure of
patient's maxillary right third molar and mandibular the extraction spaces with simultaneous closing-loop
second premolars were congenitally missing. The mechanics. Detailing was initiated with 0.017 3 0.025-
cephalometric superimposition showed significant in stainless steel wires in both arches. The patient's over-
growth of the mandible in the forward and downward jet and overbite were overcorrected in anticipation of po-
directions (Fig 7). More balanced patterns of chewing tential relapse. The total second phase treatment period
movement was observed in the right side (Fig 8). was 29 months. After debonding and debanding, a
The second phase of orthodontic treatment began lingual fixed retainer combined with a wraparound
when the patient was 13 years 2 months of age. Initially, type of retainer was placed in the maxillary arch, with a
combination headgear and a transpalatal arch were canine-to-canine lingual bonded retainer in the mandib-
placed and fitted in the maxillary arch to provide ular arch.
anchorage reinforcement. Safety instructions and diary
sheets were provided for wearing the headgear. After
TREATMENT RESULTS
extraction of the maxillary first premolars and mandib-
ular right deciduous second molar, an 0.018-in slot The first phase orthodontic treatment corrected the
preadjusted edgewise appliance with a 0.014-in nickel- patient's skeletal discrepancy and occlusal relationships.
titanium wire in the maxillary arch was placed to initiate The favorable growth of the mandible reduced the ANB
leveling. Two months later, an 0.018-in preadjusted angle by 2.8 (Table II). Longitudinal observation of the
edgewise appliance with a 0.016-in nickel-titanium patient's body weight showed a decrease in the relative
wire was placed in the mandibular arch. Simultaneously, weight gain from 9 years of age, which was possibly
the maxillary wire was changed to a 0.016 3 0.022-in associated with the dietary treatment (Fig 3, E). The
nickel-titanium archwire. Five months after leveling functional appliance treatment resulted in relief of the
and alignment, a 0.016-in stainless steel archwire was patient's snoring and OSA events (determined in an
installed to start the retraction of the maxillary canines. interview with her family). The second phase of ortho-
The mesial movement of the mandibular first molars dontic treatment resulted in improvement of the

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Fig 7. Superimposition of cephalometric tracings from pretreatment (black) and end of the first phase
of treatment (blue): A, sella-nasion plane at sella; B, palatal plane at ANS; C, mandibular plane at
menton.

Fig 8. The condylar movement and incisal paths at the end of the first phase of treatment recorded with
the 6 degrees of freedom jaw movement recording system: A, opening and closing, protrusive, and
lateral excursive movements; B, chewing movements. The red lines indicate the opening phase,
and the blue lines indicate the closing phase.

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Fig 9. Posttreatment records: A, facial photographs; B, intraoral photographs; C, lateral cephalogram;


D, posteroanterior cephalogram; E, panoramic radiograph.

patient's facial profile, with notable changes in lip posttreatment cephalometric analysis showed a slight
posture and balance from retraction of the upper and decrease of the SNB angle due to the correction of the
lower lips (Fig 9). The posttreatment casts showed deep overbite by rotating the mandible downward.
well-aligned arches and good interdigitation of the Vertical growth continued throughout the treatment,
teeth. Class I canine and molar relationships were estab- confirmed by the overall superimposition, and equated
lished on both sides with an overcorrected overjet of to a 4-mm increase in lower anterior face height
1.5 mm and an overbite of 2.0 mm (Fig 10). The (Me/PP, 66.5 mm) (Fig 11). The maxillary incisors were

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Fig 10. Posttreatment dental casts.

Fig 11. Superimposition of the cephalometric tracings obtained at the end of the first phase of treat-
ment (blue) and after the completion of treatment (red): A, sella-nasion plane at sella; B, palatal plane
at ANS; C, mandibular plane at menton.

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Fig 12. Posttreatment condylar movement and incisal paths recorded with the 6 degrees of freedom
jaw movement recording system: A, opening and closing, protrusive, and lateral excursive movements;
B, chewing movements. The red lines indicate the opening phase, and the blue lines indicate the clos-
ing phase.

inclined lingually by 12.5 due to a camouflage skeletal patient and her family were satisfied with the treatment
Class II cranial relationship and had been intruded by results.
1.5 mm. The mandibular incisors were also inclined
lingually by 5.9 . Acceptable root paralleling was DISCUSSION
observed on a panoramic radiograph. Only slight apical We described the case of a 9-year-old girl with PWS.
root resorption was observed, especially in the maxillary To the best of our knowledge, this study is the first report
central incisors (Fig 9, E). of orthodontic treatment for a patient with PWS with a
Evaluation of the patient's jaw movement showed longitudinal assessment of the stomatognathic func-
that the movements of both sides of the condylar heads tion. Proper stability of the occlusion with a satisfactory
during protrusive and lateral excursion were stable with functional excursion was achieved after comprehensive
a good locus (Fig 12, A). A chewing test demonstrated 2-stage treatment. The posttreatment photographs
increases in the range of motion of both condyles and showed a significant and positive change in the facial
a stabilized pattern of movement during chewing on balance compared with the pretreatment photographs.
both sides (Fig 12, B). After 26 months of retention, The protrusion of the maxillary incisors and the convex
her occlusion was stable. The good facial esthetics profile had been reduced, and the patient had a more
achieved by the treatment were maintained (Fig 13). pleasing profile. The evaluations of her stomatologic
Intraoral photographs and the study models also functions showed that her condylar movement and
showed that the molar and canine relationships had incisal pathway of protrusive lateral excursion and chew-
been maintained (Figs 13 and 14). Overjet and overbite ing had slightly improved after orthodontic treatment
were slightly increased because the maxillary incisors (Figs 4, 8, and 12). These functional improvements
were slightly extruded (Table II). The ratio of the might be explained by correction of the excessive overjet
tongue area to the intermaxillary space during ortho- and deep overbite that were likely to create an ideal
dontic treatment was assessed as described previ- canine protected occlusion, thereby producing a more
ously.18 From the results, the ratio of her tongue area stable jaw movement. Previously, authors have debated
to the intermaxillary space was dramatically decreased the criteria for functional occlusion; however, there is no
from 89.5% to 68.6% after functional appliance treat- single predominant type of functional occlusion in na-
ment. This favorable change was almost maintained ture, and thus no evidence-based studies support this
during phase 2 treatment and retention (Table III). argument.19
The occlusal force and contact area gradually increased Patients with PWS have a different craniofacial
throughout a 2-year retention period (Table I). The morphology with reductions in some maxillofacial

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Fig 13. Postretention recordings: A, facial photographs; B, intraoral photographs; C, lateral cephalo-
gram; D, posteroanterior cephalogram; E, panoramic radiograph.

skeletal dimensions.11 Schaedel et al20 reported that to- characteristic skeletal features in patients with PWS
tal mandibular length, length of the ramus and the when formulating an individualized orthodontic treat-
body of the mandible, maxillary length, posterior facial ment plan.22 Regarding the pretreatment cephalometric
height, and midfacial height were reduced. General analysis of our patient, both the ramus and the body of
skeletal abnormalities were found, including short stat- the mandible were reduced in size, and the lower facial
ure, small hands and feet, and decreased growth veloc- height ratio was slightly small, which might have pre-
ity.21 Orthodontists should be aware of these disposed her to OSA.

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Fig 14. Postretention dental casts.

Table III. Cephalometric evaluation of intermaxillary space areas


Variable Mean SD Pretreatment Preedgewise Posttreatment Postretention
Intermaxillary space area index (IMA) (mm2) 2670 216 2585 3030 3297 3288
Tongue shadow area (TA) (mm2) 1930 161 2314 2077 2425 2283
Ratio of TA/IMA (%) 73.1 6.6 89.5 68.6 73.5 69.4

Sleep-disordered breathing, including OSA and cen- she found the relief of patient's OSA after wearing the
tral hypoventilation during sleep, is a common compli- elastic open activator and without any deteriorated
cation of PWS.6 These problems can lead to functional symptom from phase 2 treatment to the retention
impairments and may also contribute to sudden death period. This information was consistent with the results
in infants and young children with PWS who are of the ratio of the tongue area to the intermaxillary
treated with growth hormones.23 Functional appliance area. All of these findings indicated that our functional
therapy is an obvious treatment choice for mandibular appliance treatment resulted in relief of her OSA.
deficiencies, since it stimulates and enhances the This case demanded high anchorage. Thus, the
downward and forward growth of the mandible during anchorage was reinforced with combination headgear
correction of Class II skeletal malocclusion.24,25 In our and a transpalatal arch. However, the pretreatment
patient, the elastic open activator was also used to and posttreatment cephalogram tracings illustrated the
increase the airway space and achieve stable anterior extrusion and mesial movement of the maxillary first
positions of the mandible and tongue, and the molars. In recent years, implant-anchored orthodontics
forward movement of the soft palate with a resultant has become widely used to provide sufficient anchorage
increase in the oropharyngeal airway space. This for various tooth movements. This method also enables
increase in airway space made it considerably less sufficient anchorage to retract the anterior teeth, even in
likely for oropharyngeal tissue to collapse due to patients who are uncooperative with regard to wearing
negative inspiratory pressure.26 The assessment of the orthodontic appliances.27 Although this patient was
patient's OSA during treatment was determined by in- cooperative with wearing headgear, such an approach
quiry with her family. The patient's mother told us that might be considered effective.

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This report described the longitudinal orthodontic evidence-based view of canine protected occlusion. Am J Orthod
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