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U. Meyer and V. Kerkfeld
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95. Selvi R, Mukunda Priyanka A.Role of SOX9in the etiology of Pierre-Robin Syndrome. Iran J Basic Med Sci. 2013;16(5):700–4.
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97. Khanna JN, Andrade NN.Hemifacial hypertrophy. Report of two cases. Int J Oral Maxillofac Surg. 1989;18(294):7.
98. Islam MN, Bhattacharyya I, Ojha J, Bober K, Cohen DM, Green JG.Comparison between true and partial hemifacial hypertrophy. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007;104(501):9.
99. Gessel A. Hemihypertrophy and twinning. Am J Med Sci. 1927;173:542.
100. Lee S, Sze R, Murakami C, Gruss J, Cunningham M.Hemifacial myohyperplasia: description of a new syndrome. Am J Med Genet. 2001;103(326):33.
101. Cohen MM Jr. Perspectives on craniofacial asym­metry. IV.Hemi asymmetries. Int J Oral Maxillofac Surg. 1995;24(134):41.
102. Rudolph CE, Norvold RW.Congenital partial hemi­hypertrophy involving marked malocclusion. J Dent Res. 1944;23(133):9.
103. Horswell BB, Holmes AD, Barnett JS, Hookey SR. Primary hemihypertrophy of the face: review and report of two cases. J Oral Maxillofac Surg. 1987;45(217):22.
104. Pollock RA, Newman MH, Burdi AR, Condit DP. Congenital hemifacial hyperplasia: an embryo­logic hypothesis and case report. Cleft Palate J. 1985;22(173):84.
105. Noe O, Berman HH. The etiology of congenital hemihypertrophy and one case report. Arch Pediatr. 1962;79(278):88.
106. Yoshimoto H, Yano H, Kobayashi K, Hirano A, Motomura K, Ohtsuru A, et al. Increased pro­liferative activity of osteoblasts in congenital hemifacial hypertrophy. Plast Reconstr Surg. 1998;102(1605):10.
107. Yamazaki K, Eng C, Kuznetsov SA, Reinisch J, Yamashita DD, Walker J, etal. Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia. Bonekey Rep. 2015;4:654.
108. Xu M, Chan FC, Jin X, et al. Hemimandibular hyperplasia: classication and treatment algorithm revisited. J Craniofac Surg. 2014;25(2):355–8.
109. Tuncer BB, Atac MS, Yuksel S.A case report com­paring 3-D evaluation in the diagnosis and treat­ment planning of hemimandibular hyperplasia with conventional radiography. J Craniomaxillofac Surg. 2009;37(6):312–9.
110. Ravi V, Srinivasan S, Jacob M, etal. Hyperplasia of the mandibular body: an anomaly in a developmen­tal anomaly. J Pharm Bioallied Sci. 2013;5(Suppl
2):S139–41.
111. Taguchi R, Yamashita M, Kawakami S.Facial asym­metry with enlarged frontal sinus and hyperplasia of the cranial, nasal, and mandible bones. J Craniofac Surg. 2014;25(4):1557–9.
112. Ferguson JW. Denitive surgical correction of the deformity resulting from hemimandibular hyperpla­sia. J Craniomaxillofac Surg. 2005;33(3):150–7.
113. de Bont LG, Blankestijn J, Panders AK, et al. Unilateral condylar hyperplasia combined with syno­vial chondromatosis of the temporomandibular joint. Report of a case. J Maxillofac Surg. 1985;13:32–6.
114. Warrier SA, Sathasivasubramanian S. Unilateral condylar hyperplasia—a rare case report. Sri Ramachandra J Med. 2010;3:20–2.
115. Perriman A, Uthman A. Unilateral condylar hyper­plasia. Br J Oral Surg. 1971;3:273–80.
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116. Kaur A, Boparai CDS, Singh B, etal. Facial asym­metry secondary to mandibular condylar hyperpla­sia—a case report with review of literature. Indian J Comprehensive Dent Care. 2013;3:356–8.
117. Fisch AW, Espinosa CI, Quezada SR.Facial asym­metry secondary to mandibular condylar hyper­plasia: a case report. Revista Odontol Mexicana. 2011;15:250–5.
118. Villanueva-Alcojol L, Monje FG-G. Hyperplasia of the mandibular condyle: clinical, histopathologi­cal, and treatment considerations in a series of 36 patients. J Oral Maxillofac Surg. 2011;69(2):447–55.
119. Perriman A, Uthman A. Unilateral condylar hyper­plasia. Br J Oral Surg. 1971;8:273–80.
120. Nitzan DW, Katsnelson A, Bermanis I, et al. The clinical characteristics of condylar hyperplasia: experience with 61 patients. J Oral Maxillofac Surg. 2008;66:312–8.
121. Mussa A, Di Candia S, Russo S, Catania S, De Pellegrin M, Di Luzio L, et al. Recommendations of the Scientic Committee of the Italian Beckwith­Wiedemann syndrome association on the diagnosis, management and follow-up of the syndrome. Eur J Med Genet. 2016;59:52–64.
122. Mussa A, Molinatto C, Cerrato F, Palumbo O, Carella M, Baldassarre G, etal. Assisted reproduc­tive techniques and risk of Beckwith-Wiedemann Syndrome. Pediatrics. 2017;140:e20164311.
123. DeBaun MR, Niemitz EL, Feinberg AP.Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet. 2003;72:156–60.
124. Halliday J, Oke K, Breheny S, Algar E, Amor DJ. Beckwith-Wiedemann Syndrome and IVF: a case-control study. Am J Hum Genet. 2004;75:526–8.
125. Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, et al. Clinical and molecular diag­nosis, screening and management of Beckwith– Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 2018;14:229–49.
126. Duffy KA, Cielo CM, Cohen JL, Gonzalez-Gandol CX, Griff J, Hathaway ER, etal. Characterization of the Beckwith-Wiedemann spectrum: diagno­sis and management. Am J Med Genet Part C. 2019;181:693–708.
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129. Maas S, Vansenne F, Kadouch D, Ibrahim A, Bliek J, Hopman S, etal. Phenotype, cancer risk, and surveil-
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130. Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, etal. Simpson-Golabi­Behmel syndrome types I and II. Orphanet J Rare Dis. 2014;9:138.
131. Knopp C, Rudnik-Schöneborn S, Zerres K, Gencik M, Spengler S, Eggermann T. Twenty-one years to the right diagnosis—clinical overlap of Simpson­Golabi- Behmel and Beckwith-Wiedemann syn­drome. Am J Med Genet A. 2015;167a:151–5.
132. Tatton-Brown K, Cole TRP, Rahman N. Sotos Syndrome. In: Adam MP, Ardinger HH, Pagon RA, etal., editors. GeneReviews®. Seattle: University of Washington; 1993.
133. Kurotaki N, Stankiewicz P, Wakui K, Niikawa N, Lupski JR. Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats. Hum Mol Genet. 2005;14:535–42.
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Treatment Principles ofBranchial
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Arch Diseases
ValentinKerkfeld andUlrichMeyer
9
Introduction
The treatment of branchial arch diseases, like their classication, is clinically very complex and requires a good multidisciplinary collaboration of oral surgeons, plastic surgeons, pediatricians, orthodontists, and other practitioners depending on the severity of the disease. In addition to the purely somatic consideration, the psychological component must not be disregarded. Changes in the face have far-reaching effects on psychoso­cial development. Therefore, psychological sup­port of the patient and his relatives before and after surgical therapy should not be omitted. This can also manage any expectations patients and their relatives may have about surgical outcome.
Surgical Treatments
Branchial arches are metameric in structure, i.e., each branchial arch is structurally constituted in the same way. Thus, each branchial arch has a nucleus of mesoderm, which later gives rise to
V. Kerkfeld (*) Clinic for Maxillofacial and Plastic Facial Surgery, Westdeutsche Kieferklinik; University of Düsseldorf, Düsseldorf, Germany
U. Meyer Center for Jaw-, Face- and Skull Surgery, Münster, Germany e-mail: praxis@mkg-muenster.de
cartilage, bone and muscle, a branchial arch nerve from the neural crest, and a branchial arch artery. Accordingly, branchial arch diseases can affect the hard tissue, soft tissue, as well as ner­vous structures [1]. Due to the heterogeneity of symptoms and manifestations of branchial arch diseases, there is no one xed treatment concept. It is much more the task of the practitioner to determine the correct therapy steps based on the individual symptoms. Therapeutic options are described in this chapter depending on the affected organ.
Hard Tissue
Jaw surgery has a central role in the therapeutic concept of branchial arch diseases, as it is almost always accompanied by a change in the jaws (Fig.9.1).
Orthognathic Surgery
Both mandibular and maxillary displacement as well as combined maxillary and mandibular dis­placement in terms of orthognathic surgery may be necessary. If the indication is purely aesthetic, treatment should be delayed until growth is com­plete in order to avoid recurrences. However, functional jaw relocation surgery may already be indicated in childhood to prevent growth retarda­tion and functional impairment during develop­ment [2].
© Springer Nature Switzerland AG 2023 U. Meyer (ed.), Fundamentals of Craniofacial Malformations,
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Fig. 9.1 Radiological features of a patient suffering from Goldenhar syndrome
V. Kerkfeld and U. Meyer
Distraction Osteogenesis
Distraction osteogenesis is a widely used thera­peutic option to autologously augment local bone [3]. This technique is able to achieve new bone formation even after growth has been completed. The surrounding tissue, soft tissues, and vascular supply are adapted to the distraction. Mandibular distraction osteogenesis allows mandibular lengthening in early childhood, e.g., in patients with Pierre Robin sequence or Goldenhar syn­drome [4].
In PRS, distraction osteogenesis can prevent further invasive medical measures that otherwise might become necessary. Having lengthened the mandible, the tongue is pulled further ventrally so that the airway is less restricted. The typical severe restrictions, such as respiratory distress and eating disorders, can thus be reduced, so that tracheotomies and tube feeding may not be nec­essary [5].
Distraction osteogenesis is able to generate long-term size increases of the mandible, contrib­uting to a symmetrical appearance [6, 7].
Augmentation
However, orthognathic surgery can be of little help in cases of aplasia of the jaw. In these cases, complex reconstruction of the unattached jaw is necessary. This can be achieved by autologous bone transplantation or articial bone replace­ment. Both procedures have their individual
advantages and disadvantages and must be care­fully considered with the patient and the patient’s guardians.
For transplantation, autologous tissue is taken from a healthy donor site (e.g., grafted ribs [8, 9], bula [10]) and implanted at the missing site. However, transplantation suffers from the risk of donor-site morbidity. The bone defect is decisive in the choice of transplantation procedure.
In recent years, the technique of augmentation with articial materials such as polyether ether ketone (PEEK) has therefore become increas­ingly widespread. In this way, CAD/CAM­supported patient-specic implants can be manufactured, which can be implanted quickly and safely [11].
In this way, even larger defects can be treated adequately.
In patients with more complex defects, the use of temporomandibular joint implants may also be necessary [12].
Soft Tissue
In addition to the bony structures, the soft tissue structures, including fatty tissue and muscles, play a decisive role in facial appearance and facial symmetry. Various therapeutic approaches have been established to counteract this primarily aesthetic decit.
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Adipose Graft
Autologous adipose grafting allows relatively uncomplicated augmentation of soft tissue. The advantage of autologous adipose tissue grafting is complete biocompatibility and subsequent modication by harvesting or further addition of adipose tissue. In addition, the human body has an almost inexhaustible source of this adipose tis­sue, which can also be removed effortlessly and without great donor-site morbidity. Nevertheless, the possible complications, such as over- or undercorrection, lumps, bumps, infection, dam­age to adjacent structures, and ischemic necrosis, must be considered [13].
Pedicled Flaps
Pedicled aps can ll larger soft tissue defects. This involves autologous transplantation of soft tissue consisting of skin, fatty tissue, and often attached muscle. This procedure, established in reconstructive surgery, is often used after trauma or tumor, but has been little studied in the therapy of congenital defects [14].
Free Flaps
For large soft tissue defects, the free ap tech­nique is also an option. Here, the autologous graft is cut off from the blood supply at its origin and implanted freely at the defect site. Reanastomosis with the local blood vessels is performed here. However, this also represents the critical step in healing, as free ap grafting carries the risk of nonhealing or insufcient blood supply. Nevertheless, this procedure has also been described in congenital defect situations [14].
Implants
In addition to autologous grafts, articial implants are also available to ll soft tissue defects. The materials used are mainly silicone and polyethyl­ene (PEEK). Especially mandibular defects, such as aplastic jaw angles, have recently achieved excellent results. However, since the materials are static and do not grow with the patient, this procedure is only indicated for fully grown patients [15].
Nervous Structure
In the context of branchial arch diseases, there may also be underdevelopment of the nerves, with the failure of the facial nerve (N.VII as a nerve component of the second branchial arch) being particularly clinically prominent. The facial paralysis leads to considerable functional, aesthetic, and consequently also psychosocial problems.
Cause Oriented: Cross-Facial Nerve Grafting
Cross-facial nerve grafting is possible as a causal therapy. In this procedure, a nerve interposition device is moved from the healthy side to the dis­eased side. The nerve interposition is usually the sural nerve, which is easy to reach and whose sensitive innervation area is also very small, so that no major neuronal decits are to be expected after removal. A branch of the facial nerve on the healthy side is split and connected to the interpo­sition graft. Subsequently, a symmetrical motor function of the mimic musculature is achieved [16, 17].
Symptom Oriented
Alternatively, attempts can be made to conserva­tively compensate for the negative effects caused by facial paralysis.
Lagophthalmos
Restricted eyelid closure results in drying of the cornea. Moisture chambers as well as creams protect against drying out for the time being [18]. However, a denitive therapy should be aimed at for the sake of patient comfort. Therefore, lid loading is an easy, cost-effective, and reversible attempt to manage lagophthalmos [19]. An oph­thalmologic presentation is mandatory.
Mouth Angle
Drooping corners of the mouth on the affected side have a strong impact on the psychosocial appearance in addition to functional limitation. If cross-facial nerve grafting is not possible, an
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attempt is made to achieve symmetry of both sides by reducing the muscle tone of the depres­sor anguli oris muscle on the healthy side by botulinum toxin administration. As ultima ratio, surgical removal of the depressor anguli oris muscle is also possible [20].
Microtia
Microtia is one of the most common and often most obvious symptoms of patients with bran­chial arch diseases (Fig.9.2). This can be accom­panied by sometimes signicant functional disturbances up to anacusis. An otolaryngologic evaluation is necessary in all cases, and some otolaryngologists have additional qualications in the eld of ear reconstruction. In principle, there are three therapeutic approaches for ear reconstruction, if desired [21, 22].
Autologous Reconstruction
The gold standard in ear reconstruction is autolo­gous transplantation of rib cartilage. The proce­dure offers very good long-term results and is
therefore well suited as a long-term solution. This therapy option is conceivable from the age of 8years [21, 23].
Silicone Prosthesis
Silicone prostheses mimic the appearance of the outer ear. They can be either bonded or implant supported. In childhood, the desire for a prosthe­sis often arises from the parents’ motivation to protect the child from bullying. In this case, the noninvasive bonded procedure should be used so as not to generate further damage to the defect situation in view of the child’s growth. After growth is complete, an implant is possible, which sometimes generates more patient comfort [21,
24].
Porous Polyethylene Implant
Porous polyether implants are a well-established option for obtaining the desired outcome of autologous reconstructive procedures without incurring the risks and disadvantages of that same therapy. Here, patient-specic ear implants are individually manufactured and subsequently implanted. Due to the fact that at the age of 6, the
Fig. 9.2 Typical clinical appearance of a patient with Goldenhar syndrome. The right side of the face is shortened, and both ear and mandible are underdeveloped
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Fig. 9.3 Dental status in a patient with Goldenhar syn­drome. The very pronounced interlocking of the teeth with consecutive malocclusion as well as difcult-to-
ear is already almost at the size and width of the later adult human being, reconstruction can usu­ally already be carried out at school age. However, as with any invasive reconstructive procedure, there is a risk of infection. In addition, it can frac­ture under mechanical stress, e.g., during contact sports [21, 25, 26].
Dental Problems
Patients with branchial arch diseases often suffer from secondary dental problems. These include dental deformities, but also sometimes serious dental malocclusions (Fig.9.3). Due to tooth and dental arch anomalies, occlusion problems and a reduced mouth opening may occur. The conse­quences are poor oral health (caries, periodonti­tis) in adulthood as well as nutritional and respiratory problems, which occur mainly in infancy and childhood. For this reason, early and effective orthodontic co-management is essential.
Conclusion
Treatment of the effects of branchial arch dis­eases is very complex and must be tailored to the individual patient. Therefore, a multidisciplinary team of practitioners versed in the eld is essen­tial for comprehensive and holistic treatment of
accomplish oral hygiene can be seen. Furthermore, the orthopantomogram shows the severely displaced tooth 43 and the missing ramus of the right mandible
these patients. The outstanding advancement of many reconstructive therapy approaches makes it possible to signicantly reduce or even eliminate the congenital decits. However, the choice of the specic therapy not only is given by the maxi­mum possible, but also signicantly depends on intrinsic and extrinsic factors of the patient.
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25. Fozo MS, Sclafani AP, Romo T III. Microtia recon­struction using a porous polyethylene framework. Facial Plast Surg. 2000;16(01):15–22.
26. Romo T, Reitzen SD. Aesthetic microtia recon­struction with Medpor. Facial Plast Surg. 2008;24(01):120–8.
Part V
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Diseases: Dysgnathias
History ofOrthognathic Surgery
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T.Fillies andT.Seier
10
Mandibular Surgery
The history of orthognathic surgery started in the mid of the nineteenth century. The American sur­geon Simon P.Hullihen is said to be the father of orthognathic surgery [1, 2]. In 1849, he described the rst mandibular osteotomy for the correction of a skeletal anterior open bite. He operated a woman who suffered from mandibular deformity due to a burn scar contracture. To improve the occlusion, Hullihen performed a wedge osteot­omy in the premolar region, which enabled him to set back the anterior mandibular segment and close the open bite. In these times, modern plate and screw osteosynthesis was far from develop­ment and the segments were stabilized with a cemented occlusal splint that was constructed on a plaster cast to allow bony healing [13].
In 1887, Vilray P. Blair, who closely worked together with the pioneering orthodontist Edward E.Angle, performed a modication of Hullihen’s operation for the correction of mandibular prog­nathism. He performed a bilateral wedge resec­tion to set the mandible back [1, 2].
The Austrian surgeon Anton Freiherr von Eiselsberg published a modied mandibular set­back technique in 1906 [1, 4] using a step oste-
T. Fillies (*) · T. Seier Clinic of Maxillofacial and Plastic Facial Surgery, Marienhospital Stuttgart, Stuttgart, Germany e-mail: thomas.llies@vinzenz.de; Thomas.seier@
vinzenz.de
otomy design to increase the surface area of bony contact to improve osseous consolidation [1], a concept that should become very important in the future.
The rst horizontal osteotomy above the occlusal plane to set back the mandible in prog­nathism was described by Sir William Arbuthnot Lane in 1905 and was soon adopted by Blair and Babcock [2]. In 1906, Blair described a proce­dure to advance the mandible by using a Gigli saw in a blind fashion via small extraoral skin incisions for the horizontal ramus osteotomy [1,
5] (Fig.10.1).
Varaztad Kazanjian, an American surgeon from Boston, also used a Gigli saw for mandibu­lar body osteotomies and an orthodontic splint that was cemented after surgery to stabilize the occlusion after surgical correction of mandibular prognathism [1]. In 1928, the Czech surgeon Frantisek Kostecka described a similar technique, which used a Gigli saw for the horizontal ramus osteotomy via an extraoral approach that was widely used in Europe [1].
In the late 1920s, the famous oral and maxil­lofacial surgeons Martin Wassmund from Berlin and Hans Pichler from Vienna independently described the so-called inverted-L osteotomy to advance the mandible [1]. They used an extraoral approach and put bone grafts between the oste­otomy sites to improve bony consolidation [1]. Hans Pichler was a very inuential surgeon and is considered to be the father of the Vienna school
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