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Orthodontic treatment of an open bite patient with oral-facial-digital syndrome
CASE REPORTS
Orthodontic treatment of an open bite patient with oral-facial-digital syndrome Kunishige Nagahara, DDS, PhD," Kuniaki Miyajima, DDS, MS, PhD, b Shoji Nakamura, DDS, PhD, ~ and Tetsuo lizuka, DDS, PhD ~
Nagoya, Japan A case of oral-facial-digital syndrome was treated orthodontically. Characteristics of this case were mandibular protrusion with open bite. Occlusal stability after correction of this malocclusion was achieved with the uprighting of the posterior teeth, surgical reduction of the enlarged tonsils and highly attached tongue frenum, and oral functional training. (Am J Orthod Dentofac Orthop 1996;110:137-44.)
O r a l - f a c i a l - d i g i t a l Syndrome ( O F D syndrome) was first reported by Papil!on-L6age et al. ~ in 1954 as a syndrome of which the chief symptoms were oral, facial, and digital malformation. Rimoin et al? in 1967 classified this syndrome into two types; O F D - I and O F D - I I (Mohr Syndrome), based on the characteristics of malformation and other associated malformations. W a h m a n et al. 3 reported that this syndrome occurred once in every 50,000 births in white populations. U m e z u et al. 4 also reported that 20 cases had been found in J a p a n by 1978. A cephalometric characteristic of this syndrome is a large nasion-sella-basion angle
i
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It
z ~) ,~ $|
J(~4 >t
,,
tJ e:
Jt
Izz !
(NSB)5,6
We have orthodontically treated one case of O F D syndrome. Some of the findings in the orthodontic diagnosis and treatment procedures are presented. CASE REPORT The patient was a girl, who was 14 years 8 months at the initial visit. Her chief complaint was mandibular prognathism and open bite. Her birth weight had been 3800 gm and her mother's pregnancy had been normal. Family history Her mother revealed that the patient's paternal grandmother, already deceased, had a similar facial ap-
I
SNL
I
Fig. 1. Chromosome analysis.
pearance. No other family members had such a facial problem. Chromosome analysis The patient's peripheral blood was incubated in a tissue-culture medium and prepared for chromosome analysis with the use of a technique based on that of Moorhead et al. 7 No abnormality was found in the white-cell chromosomes (Fig. 1). General findings
From the Department of Orthodontics, School of Dentistry, AichiGakuin University. "Assistant professor. b.Associate professor. CProfessor and chair Reprint requests to: Dr. Kunishige Nagahara, Department of Orthodontics, School of Dentistry, Aichi-Gahnin University, 2-11, Suemori-dori, Chikusa-ku, Nagoya, 464, Japan. Copyright © 1996 by the American Association of Orthodontists. 0889-5406/96/$5.00 + 0 8/4/65032
Her height was within the normal range for a Japanese girl, and she was healthy. There were mild signs of mental retardation. The carpal index8 revealed that ossification was completed at all the carpal bones, metacarpals, and phalanges. Maturity indicators of the distal epiphysis of the radius and ulna revealed that her skeletal age was about 16 years old (Fig. 2). Her skeletal maturity was advanced with respect to chronologic age. 137
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American Journal of Orthodontics and Dentofacial Orthopedics August 1996
Fig. 2, Hand-wrist x-ray photograph.
Fig. 3. Facial appearance: A, Frontal view and B, lateral profile.
Table I. Summary of cephalometric analysis Measurement SNA SNB ANB Gonial A FMA IMPA FMIA U-1 to FH Interincisal A NSB
[
Norm
Pretreatment
Posttreatment
82.3 78.9 3.4 122.2 28.8 96.3 54.9 Ill.1 124,1 133.4
77.5 77.0 0.5 146.0 47.0 89.0 44.0 116.0 107.0 140.0
78.0 76.0 2.0 146.0 48.5 72.0 59.5 112.0 126.0 140.0
American Journal of Orthodontics and Dentofacial Orthopedics Volume 110, No. 2
Nagahara et al.
Fig. 4. Malformation of auricular tubercle and tragus and miliaria.
Fig, 5. Severe open bite in anterior segment and total reversed bite are seen with diastema. Many sagittal palatine folds are observed.
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American Journal of Orthodontics and Dentofacial Orthopedics August 1996
Fig. 6. A, Abnormality of upper labial frenulum and shortness of lingual frenulum are seen. B, Palatine tonsils are severely hypertrophied. C and D, Tongue is large and postured in forward and lower position.
Fig. 7. Panoral x-ray photograph. Lower molars show mesial tipping.
Her little finger showed shortness of the right brachymesophalangy (Fig. 2).
lateral profile shows midface deficiency, curling of the lower lip (Fig. 3, B), malformation of the auricular tubercle and tragus, and miliaria (Fig. 4). Her hair was dry.
Facial appearance The frontal view shows an opening of the inner corners of both eyes, flatness and splitting of the nasal tip, open bite, protrusion of the tongue, lip flaccidity, and strained mentalis muscle activity (Fig. 3, A). The convex
Oral findings There was a severe anterior open bite and total reversed bite (Class III) (Fig. 5). A diastema was present, and the lower midline had shifted 5 mm to the right. The
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American Journal of Orthodontics and Dentofacial Orthopedics August 1996
Fig, 11. Present occlusion at 3 years postretention.
Fig. 12. Posttreatment facial views of lip closure.
Nagahara et aL
American Journal of Orthodontics and Dentofacial Orthopedics Volume 110, No. 2
143
Treatment plan Surgical reconstruction was not accepted by the patient, so orthodontic tooth alignment was planned. Before orthodontic treatment was started, a tonsillectomy was performed. The highly attached upper labial frenulum and short lingual frenulum were also surgically corrected. The upper right and both of the lower first molars were extracted. A rapid palatal expansion appliance (RPE) was used for the upper arch. Myofunctional therapy was performed to help with correcting the low tongue posture and protrusive habit. pre
Treatment procedure The RPE appliance was placed in the patient when she was 15 years 6 months of age to expand the maxillary arch width by 8.5 ram. A quad helix was then placed for active retention. A tongue training plate TM was used for habit control. Class III mechanics were used with fixed appliances. A tooth positioner was used as a retainer for 2 years. Four third molars had erupted by 19 years 7 months of age (Fig. 10). The present occlusion at 3 years after retention is shown in Fig. 11. No pathologic dysfunction has been found. The posttreatment facial view shows that the lip closure is adequate (Fig. 12). The cephalometric analysis shows a mandibular downward and backward rotation during the treatment. The tonsillectomy seems to have produced a tongue and hyoid bone backward position. Both the upper and lower central incisors elongated and the lower incisors tipped lingually (Fig. 13). DISCUSSION Besides the malformations of the O F D syndrome in this case, there was also an upper alveolar median deft. As Graber TM has reported, this cleft may have been associated with the diastema or thick labial frenulum. Cephalometric characteristics of O F D are a large NSB angle 5"6 and micrognathia, with a large gonial angle and high mandibular plane. 6 This case also showed similar cephalometric characteristics, except the pronounced micrognathia. The tongue position was low, which was different from typical OFD. The tongue was in a forward position, associated with hypertrophied epipharyngeal tissues. These characteristics may have produced the skeletal open bite. The patient's right brachymesophalangy of her little finger was dubbed. This malformation occurs from heavy trauma and contusion. Clubfinger is also a characteristic of Down's syndrome. The clubbing of the little finger is caused by a shortness of the brachymesophalangy, which is induced when the radial side of the brachymesophalangy is
....
post T
Fig. 13. Cephalometric superimposition; mandibular slight downward and backward rotation occurred during treatment.
shorter than the ulnar side. 8 Shortness of the finger occurs in accord with the autosomal irregular dominant inherence of Mendel's law. Shortness of the brachymesophalangy of the fifth finger is the most frequent inheritance, and is said to be a normal variation. 8 This case did not show any abnormal autosomes, so it was not diagnosed as Down's syndrome. This case did not show gross mental retardation, which sometimes accompanies OFD syndrome. OFD syndrome type I (OFD-I) happens only in females, because OFD-I is an X-chromosomal dominant inheritance, so males of this type do not survive. Wahman et al., 3 however, reported an exception with a male who had 47/XXY trisomy and had OFD-I; one of the two X chromosomes held the OFD-I factor. OFD-II, on the other hand, has no sex difference but this is a very rare syndrome. This case was diagnosed as OFD-I according to the differential diagnosis of Rimoin. 2 The present malocclusion was relative mandibular protrusion despite a convex profile with anterior open bite. The anterior open bite was corrected before the crossbite treatment, because retention of open bite needs a longer period than that of crossbite, and fixed appliances would serve as a working retainer for the vertical dimension during the anteroposterior correction period, as Nagahara et al. 15 suggested. When tooth contacts were achieved, functional myotraining would be automatically performed. An unexpected result was
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that the expanded midpalatal suture did not calcify. However, occlusion has been stable during the 3-year retention period. As Graber, 14 Proffit, 16 and Subtelny et al. 17 have indicated, when the tongue and the hyoid bone are postured forward because of large tonsils or adenoids, a tonsillectomy or adenoidectomy moves them backward and reduces the anterior open bite. It is also well known that abnormally attached tongue ffenum makes the tongue posture forward and increases the anterior open bite. Therefore tongue and upper labial frenectomies and tonsillectomy were performed, followed by myofunctional therapy. Although the anteroposterior tongue posture of this case was improved, the tongue was not postured upward. CONCLUSION
The OFD syndrome with mandibular protrusion was treated orthodontically. It is suggested that the uprighting of the molars during open bite correction as well as tonsillectomy, adenoidectomy, frenectomy, and myofunctional therapy was essential for achieving optimum occlusal stability in open bite cases. REFERENCES L Papillon-Lage M, Psaume J. Dysmorphie des freins buccaux. Acta Odontol Stomatol 1954;25:7-26.
American Journal of Orthodontics and Dentofacial Orthopedics August 1996 2. Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in the oral-facialdigital syndromes. J Pediatr 1967;71:94-102. 3. Wahrman J, Berant M, Jacobs J, et aL The oral facial digital syndrome: a male-lethal condition in a boy with 47/XXY chromosomes. Pediatrics 1966;37: 812-21. 4. Umezu A, Yamamoto I, Kornatsu M, et al. Oral-facial-digital syndrome & report of a case. Jpn J Oral Surg 1978;24:790-8. 5. Schwarz EC, Fish A. Roentgenographic features of a new congenital dysplasia. Am J Roentgenol 1960;84:511-7. 6. Aduss H, Pruzansky S. Postnatal craniofacial development in children with the oral-facial-digital syndrome. Arch Oral Biol I964;9:193-203. 7. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of lead cultured from human peripheral blood. Exp Cell Res 1960;20:613-6. 8. Sugiura Y, Nakazawa O. Skeletal age x-ray diagnosis for skeletal development. Tokyo: Chugaiigakusha, I979:17-75, 207-15. 9. Iizuka T. A study of facial growth in Japanese children using lateral eephalograms. J Jpn Stornatol Soc 1958;25:260-72. 10. Masaki F. The longitudinal study of morphological differences in the cranial base and facial structure between Japanese and American white. J Jpn Orthod Soc 1980;39:436-56. 11. Ootsubo J. A study on the tooth material in Japanese adults with normal occlusion, its relationship to coronal and basal arches. J Jpn Orthod Soc 1957;16:36-46. 12. Yamauchi K, Ito K, Snematsn H. Standard for the measurements of plaster-cast from Japanese young adults with normal occlusion, J Jpn Orthod Soc 1965;24:1-7. 13. Fuwa Y, Hayakawa S, Nakamura S. A new instruction program to improve abnormal swallowing habit using bio-feedback principle. J Kinki-Tokai Orthod Soc 1986;21:44-53. 14. Graber TM. Orthodontics, principles and practice. Philadelphia: WB Saunders, 1972:360-2. 15. Nagahara K, Ikeda N. Class 'III skeletal open bite case in which the impacted mandibular third molar without full root formation was introduced to the dental arch. J IGnki-Tokai Orthod Soc 1990;25:76-81. 16. Proffit WR, Fields HW Jr. Contemporary orthodontics. St Louis: CV Mosby, 1990:105-36. 17. Subtelny JD, Sakuda M. Open bite: diagnosis and treatment. Am J Orthod 1964;50:337-58.
Orthodontic treatment of an open bite patient with oral-facial-digital syndrome Kunishige Nagahara, DDS, PhD," Kuniaki Miyajima, DDS, MS, PhD, b Shoji Nakamura, DDS, PhD, ~ and Tetsuo lizuka, DDS, PhD ~
Nagoya, Japan A case of oral-facial-digital syndrome was treated orthodontically. Characteristics of this case were mandibular protrusion with open bite. Occlusal stability after correction of this malocclusion was achieved with the uprighting of the posterior teeth, surgical reduction of the enlarged tonsils and highly attached tongue frenum, and oral functional training. (Am J Orthod Dentofac Orthop 1996;110:137-44.)
O r a l - f a c i a l - d i g i t a l Syndrome ( O F D syndrome) was first reported by Papil!on-L6age et al. ~ in 1954 as a syndrome of which the chief symptoms were oral, facial, and digital malformation. Rimoin et al? in 1967 classified this syndrome into two types; O F D - I and O F D - I I (Mohr Syndrome), based on the characteristics of malformation and other associated malformations. W a h m a n et al. 3 reported that this syndrome occurred once in every 50,000 births in white populations. U m e z u et al. 4 also reported that 20 cases had been found in J a p a n by 1978. A cephalometric characteristic of this syndrome is a large nasion-sella-basion angle
i
7i i!
~¢*~
It
z ~) ,~ $|
J(~4 >t
,,
tJ e:
Jt
Izz !
(NSB)5,6
We have orthodontically treated one case of O F D syndrome. Some of the findings in the orthodontic diagnosis and treatment procedures are presented. CASE REPORT The patient was a girl, who was 14 years 8 months at the initial visit. Her chief complaint was mandibular prognathism and open bite. Her birth weight had been 3800 gm and her mother's pregnancy had been normal. Family history Her mother revealed that the patient's paternal grandmother, already deceased, had a similar facial ap-
I
SNL
I
Fig. 1. Chromosome analysis.
pearance. No other family members had such a facial problem. Chromosome analysis The patient's peripheral blood was incubated in a tissue-culture medium and prepared for chromosome analysis with the use of a technique based on that of Moorhead et al. 7 No abnormality was found in the white-cell chromosomes (Fig. 1). General findings
From the Department of Orthodontics, School of Dentistry, AichiGakuin University. "Assistant professor. b.Associate professor. CProfessor and chair Reprint requests to: Dr. Kunishige Nagahara, Department of Orthodontics, School of Dentistry, Aichi-Gahnin University, 2-11, Suemori-dori, Chikusa-ku, Nagoya, 464, Japan. Copyright © 1996 by the American Association of Orthodontists. 0889-5406/96/$5.00 + 0 8/4/65032
Her height was within the normal range for a Japanese girl, and she was healthy. There were mild signs of mental retardation. The carpal index8 revealed that ossification was completed at all the carpal bones, metacarpals, and phalanges. Maturity indicators of the distal epiphysis of the radius and ulna revealed that her skeletal age was about 16 years old (Fig. 2). Her skeletal maturity was advanced with respect to chronologic age. 137
138
Nagahara et al.
American Journal of Orthodontics and Dentofacial Orthopedics August 1996
Fig. 2, Hand-wrist x-ray photograph.
Fig. 3. Facial appearance: A, Frontal view and B, lateral profile.
Table I. Summary of cephalometric analysis Measurement SNA SNB ANB Gonial A FMA IMPA FMIA U-1 to FH Interincisal A NSB
[
Norm
Pretreatment
Posttreatment
82.3 78.9 3.4 122.2 28.8 96.3 54.9 Ill.1 124,1 133.4
77.5 77.0 0.5 146.0 47.0 89.0 44.0 116.0 107.0 140.0
78.0 76.0 2.0 146.0 48.5 72.0 59.5 112.0 126.0 140.0
American Journal of Orthodontics and Dentofacial Orthopedics Volume 110, No. 2
Nagahara et al.
Fig. 4. Malformation of auricular tubercle and tragus and miliaria.
Fig, 5. Severe open bite in anterior segment and total reversed bite are seen with diastema. Many sagittal palatine folds are observed.
139
1 40
Nagahara et al.
American Journal of Orthodontics and Dentofacial Orthopedics August 1996
Fig. 6. A, Abnormality of upper labial frenulum and shortness of lingual frenulum are seen. B, Palatine tonsils are severely hypertrophied. C and D, Tongue is large and postured in forward and lower position.
Fig. 7. Panoral x-ray photograph. Lower molars show mesial tipping.
Her little finger showed shortness of the right brachymesophalangy (Fig. 2).
lateral profile shows midface deficiency, curling of the lower lip (Fig. 3, B), malformation of the auricular tubercle and tragus, and miliaria (Fig. 4). Her hair was dry.
Facial appearance The frontal view shows an opening of the inner corners of both eyes, flatness and splitting of the nasal tip, open bite, protrusion of the tongue, lip flaccidity, and strained mentalis muscle activity (Fig. 3, A). The convex
Oral findings There was a severe anterior open bite and total reversed bite (Class III) (Fig. 5). A diastema was present, and the lower midline had shifted 5 mm to the right. The
142
Nagahara et al.
American Journal of Orthodontics and Dentofacial Orthopedics August 1996
Fig, 11. Present occlusion at 3 years postretention.
Fig. 12. Posttreatment facial views of lip closure.
Nagahara et aL
American Journal of Orthodontics and Dentofacial Orthopedics Volume 110, No. 2
143
Treatment plan Surgical reconstruction was not accepted by the patient, so orthodontic tooth alignment was planned. Before orthodontic treatment was started, a tonsillectomy was performed. The highly attached upper labial frenulum and short lingual frenulum were also surgically corrected. The upper right and both of the lower first molars were extracted. A rapid palatal expansion appliance (RPE) was used for the upper arch. Myofunctional therapy was performed to help with correcting the low tongue posture and protrusive habit. pre
Treatment procedure The RPE appliance was placed in the patient when she was 15 years 6 months of age to expand the maxillary arch width by 8.5 ram. A quad helix was then placed for active retention. A tongue training plate TM was used for habit control. Class III mechanics were used with fixed appliances. A tooth positioner was used as a retainer for 2 years. Four third molars had erupted by 19 years 7 months of age (Fig. 10). The present occlusion at 3 years after retention is shown in Fig. 11. No pathologic dysfunction has been found. The posttreatment facial view shows that the lip closure is adequate (Fig. 12). The cephalometric analysis shows a mandibular downward and backward rotation during the treatment. The tonsillectomy seems to have produced a tongue and hyoid bone backward position. Both the upper and lower central incisors elongated and the lower incisors tipped lingually (Fig. 13). DISCUSSION Besides the malformations of the O F D syndrome in this case, there was also an upper alveolar median deft. As Graber TM has reported, this cleft may have been associated with the diastema or thick labial frenulum. Cephalometric characteristics of O F D are a large NSB angle 5"6 and micrognathia, with a large gonial angle and high mandibular plane. 6 This case also showed similar cephalometric characteristics, except the pronounced micrognathia. The tongue position was low, which was different from typical OFD. The tongue was in a forward position, associated with hypertrophied epipharyngeal tissues. These characteristics may have produced the skeletal open bite. The patient's right brachymesophalangy of her little finger was dubbed. This malformation occurs from heavy trauma and contusion. Clubfinger is also a characteristic of Down's syndrome. The clubbing of the little finger is caused by a shortness of the brachymesophalangy, which is induced when the radial side of the brachymesophalangy is
....
post T
Fig. 13. Cephalometric superimposition; mandibular slight downward and backward rotation occurred during treatment.
shorter than the ulnar side. 8 Shortness of the finger occurs in accord with the autosomal irregular dominant inherence of Mendel's law. Shortness of the brachymesophalangy of the fifth finger is the most frequent inheritance, and is said to be a normal variation. 8 This case did not show any abnormal autosomes, so it was not diagnosed as Down's syndrome. This case did not show gross mental retardation, which sometimes accompanies OFD syndrome. OFD syndrome type I (OFD-I) happens only in females, because OFD-I is an X-chromosomal dominant inheritance, so males of this type do not survive. Wahman et al., 3 however, reported an exception with a male who had 47/XXY trisomy and had OFD-I; one of the two X chromosomes held the OFD-I factor. OFD-II, on the other hand, has no sex difference but this is a very rare syndrome. This case was diagnosed as OFD-I according to the differential diagnosis of Rimoin. 2 The present malocclusion was relative mandibular protrusion despite a convex profile with anterior open bite. The anterior open bite was corrected before the crossbite treatment, because retention of open bite needs a longer period than that of crossbite, and fixed appliances would serve as a working retainer for the vertical dimension during the anteroposterior correction period, as Nagahara et al. 15 suggested. When tooth contacts were achieved, functional myotraining would be automatically performed. An unexpected result was
144
Nagahara et al.
that the expanded midpalatal suture did not calcify. However, occlusion has been stable during the 3-year retention period. As Graber, 14 Proffit, 16 and Subtelny et al. 17 have indicated, when the tongue and the hyoid bone are postured forward because of large tonsils or adenoids, a tonsillectomy or adenoidectomy moves them backward and reduces the anterior open bite. It is also well known that abnormally attached tongue ffenum makes the tongue posture forward and increases the anterior open bite. Therefore tongue and upper labial frenectomies and tonsillectomy were performed, followed by myofunctional therapy. Although the anteroposterior tongue posture of this case was improved, the tongue was not postured upward. CONCLUSION
The OFD syndrome with mandibular protrusion was treated orthodontically. It is suggested that the uprighting of the molars during open bite correction as well as tonsillectomy, adenoidectomy, frenectomy, and myofunctional therapy was essential for achieving optimum occlusal stability in open bite cases. REFERENCES L Papillon-Lage M, Psaume J. Dysmorphie des freins buccaux. Acta Odontol Stomatol 1954;25:7-26.
American Journal of Orthodontics and Dentofacial Orthopedics August 1996 2. Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in the oral-facialdigital syndromes. J Pediatr 1967;71:94-102. 3. Wahrman J, Berant M, Jacobs J, et aL The oral facial digital syndrome: a male-lethal condition in a boy with 47/XXY chromosomes. Pediatrics 1966;37: 812-21. 4. Umezu A, Yamamoto I, Kornatsu M, et al. Oral-facial-digital syndrome & report of a case. Jpn J Oral Surg 1978;24:790-8. 5. Schwarz EC, Fish A. Roentgenographic features of a new congenital dysplasia. Am J Roentgenol 1960;84:511-7. 6. Aduss H, Pruzansky S. Postnatal craniofacial development in children with the oral-facial-digital syndrome. Arch Oral Biol I964;9:193-203. 7. Moorhead PS, Nowell PC, Mellman WJ, Battips DM, Hungerford DA. Chromosome preparations of lead cultured from human peripheral blood. Exp Cell Res 1960;20:613-6. 8. Sugiura Y, Nakazawa O. Skeletal age x-ray diagnosis for skeletal development. Tokyo: Chugaiigakusha, I979:17-75, 207-15. 9. Iizuka T. A study of facial growth in Japanese children using lateral eephalograms. J Jpn Stornatol Soc 1958;25:260-72. 10. Masaki F. The longitudinal study of morphological differences in the cranial base and facial structure between Japanese and American white. J Jpn Orthod Soc 1980;39:436-56. 11. Ootsubo J. A study on the tooth material in Japanese adults with normal occlusion, its relationship to coronal and basal arches. J Jpn Orthod Soc 1957;16:36-46. 12. Yamauchi K, Ito K, Snematsn H. Standard for the measurements of plaster-cast from Japanese young adults with normal occlusion, J Jpn Orthod Soc 1965;24:1-7. 13. Fuwa Y, Hayakawa S, Nakamura S. A new instruction program to improve abnormal swallowing habit using bio-feedback principle. J Kinki-Tokai Orthod Soc 1986;21:44-53. 14. Graber TM. Orthodontics, principles and practice. Philadelphia: WB Saunders, 1972:360-2. 15. Nagahara K, Ikeda N. Class 'III skeletal open bite case in which the impacted mandibular third molar without full root formation was introduced to the dental arch. J IGnki-Tokai Orthod Soc 1990;25:76-81. 16. Proffit WR, Fields HW Jr. Contemporary orthodontics. St Louis: CV Mosby, 1990:105-36. 17. Subtelny JD, Sakuda M. Open bite: diagnosis and treatment. Am J Orthod 1964;50:337-58.