Kieferorthopädie als Fachdisziplin im Zentrum für Seltene Erkrankungen

Zusammenfassung

In diesem Artikel wird beispielhaft die Betreuung von Patientinnen und Patienten mit Lippen-Kiefer-Gaumen-Spalten und Robin Sequenz von der pränatalen Diagnostik bis zum Wachstumsabschluss beschrieben. Das kieferorthopädische Behandlungsmanagement bei Betroffenen mit oro- und kraniofazialen Fehlbildungen ist komplex, zeitintensiv und erfordert eine interdisziplinäre Koordination. Vernetzte Zentrumsstrukturen bieten eine bestmögliche interdisziplinäre Expertise bei diesen seltenen Erkrankungen. Ziel und Aufbau dieser spezialisierten Zentren sollen hier erläutert werden. Unter anderem sollten sie niederschwellig als Ansprechpartner zur Verfügung stehen und niedergelassene Kieferorthopädinnen und Kieferorthopäden in Therapieplanung, Timing und Trouble-Shooting unterstützen. Das Grundverständnis der häufigsten oro- und kraniofazialen Anomalien und die Kenntnis über frühe Behandlungsschritte wie der Versorgung mit einer Gaumenplatte oder Spornplatte sind für kieferorthopädisch Behandelnde wichtig. Denn nur so kann eine sichere, effektive Therapie und eine stabile ästhetische und funktionelle Rehabilitation gewährleistet werden. Funktionelle Beeinträchtigungen sowie skelettale und dentale Anomalien erfordern bei dieser Patientengruppe eine vorausschauende kieferorthopädische Planung. Eventuell notwendige chirurgische Eingriffe müssen im Ablauf mit bedacht und Therapieentscheidungen immer mit dem Ziel getroffen werden, die Behandlung möglichst effektiv zu gestalten.

Abstract

This article describes the management of patients with cleft lip and palate and Robin Sequence from prenatal diagnosis to the end of growth. Orthodontic treatment management of patients with oro- and craniofacial malformations is complex, time-consuming and needs an interdisciplinary coordination. A network of specialized centers offers the best possible interdisciplinary expertise in rare diseases. The goals and organization of these specialized centers will be explained in the following. A central aim is to be available as a low-threshold contact and to support resident orthodontists in treatment planning, timing and trouble-shooting. A basic knowledge of the most common cranio- and orofacial anomalies and knowledge of early treatment steps such as the early therapy with a palatal plate (with or without extended spur) are important for orthodontic practitioners. This is the only way to ensure safe, effective therapy and stable esthetic and functional rehabilitation. Functional impairments, as well as skeletal and dental anomalies, require anticipatory orthodontic planning in this patient group. Any surgical procedures that may be necessary must be considered in the treatment sequence, and treatment decisions should always be made with the goal of making the treatment as effective as possible.

Schlüsselwörter

Seltene kranio- und orofaziale Fehlbildungen - Lippen-Kiefer-Gaumenspalten - Robin Sequenz - pränatale Diagnostik - (prächirurgische) kieferorthopädische Frühbehandlung

Key words

Rare cranio- and orofacial malformations - cleft lip and palate - Robin Sequence - prenatal diagnosis - presurgical infant orthopedics

• Literatur

• 1 Melnikova I. Rare diseases and orphan drugs. Nature Reviews Drug Discovery 2012; 11: 267
• 2 https://www.bfarm.de/DE/Kodiersysteme/Kooperationen-und-Projekte/Orphanet-Deutschland/_node.html last accessed: 03/30/2022
• 3 https://www.sozialministerium.at/Themen/Gesundheit/Seltene-Krankheiten.html last accessed: 03/30/2022
• 4 http://www.orpha.net/national/CH-DE/index/startseite/ last accessed: 03/30/2022
• 5 https://nrw-zse.de/ last accessed: 03/30/2022
• 6 https://ern-cranio.eu/ last accessed: 03/30/2022
• 7 Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod 2004; 26: 7-16
• 8 Mossey PA, Little J, Munger RG. et al. Cleft lip and palate. The Lancet 2009; 374: 1773-1785
• 9 Mangold E, Ludwig KU, Nothen MM. Breakthroughs in the genetics of orofacial clefting. Trends Mol Med 2011; 17: 725-733
• 10 Stuppia L, Capogreco M, Marzo G. et al. Genetics of syndromic and nonsyndromic cleft lip and palate. Journal of Craniofacial Surgery 2011; 22: 1722-1726
• 11 Scott AR, Mader NS. Regional variations in the presentation and surgical management of Pierre Robin sequence. Laryngoscope 2014; 124: 2818-2825
• 12 Vatlach S, Maas C, Poets CF. Birth prevalence and initial treatment of Robin sequence in Germany: a prospective epidemiologic study. Orphanet J Rare Dis 2014; 9: 9
• 13 Evans AK, Rahbar R, Rogers GF. et al. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 2006; 70: 973-980
• 14 Breugem CC, Evans KN, Poets CF. et al. Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus Report. JAMA Pediatr 2016; 170: 894-902
• 15 Evans KN, Sie KC, Hopper RA. et al. Robin sequence: from diagnosis to development of an effective management plan. Pediatrics 2011; 127: 936-948
• 16 Robin P. Glossoptosis due to atresia and hypotrophy of the mandible. American journal of diseases of children 1934; 48: 541-547
• 17 Reddy VS. Evaluation of upper airway obstruction in infants with Pierre Robin sequence and the role of polysomnography – Review of current evidence. Paediatr Respir Rev 2016; 17: 80-87
• 18 Neuschulz J, Wilhelm L, Christ H. et al. Prenatal indices for mandibular retrognathia/micrognathia. J Orofac Orthop 2015; 76: 30-40
• 19 Kruse T, Neuschulz J, Wilhelm L. et al. Prenatal Diagnosis of Robin Sequence: Sensitivity, Specificity, and Clinical Relevance of an Index for Micrognathia. Cleft Palate Craniofac J 2021; 58: 1012-1019
• 20 Baujat G, Faure C, Zaouche A. et al. Oroesophageal motor disorders in Pierre Robin syndrome. J Pediatr Gastroenterol Nutr 2001; 32: 297-302
• 21 Hinrichsen K. The early development of morphology and patterns of the face in the human embryo. Adv Anat Embryol Cell Biol 1985; 98: 1-79
• 22 Maarse W, Berge SJ, Pistorius L. et al. Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review. Ultrasound Obst Gyn 2010; 35: 495-502
• 23 Maarse W, Pistorius LR, Van Eeten WK. et al. Prenatal ultrasound screening for orofacial clefts. Ultrasound Obstet Gynecol 2011; 38: 434-439
• 24 Offerdal K, Jebens N, Syvertsen T. et al. Prenatal ultrasound detection of facial clefts: a prospective study of 49,314 deliveries in a non-selected population in Norway. Ultrasound Obstet Gynecol 2008; 31: 639-646
• 25 Wilhelm L, Borgers H. The ‘equals sign’: a novel marker in the diagnosis of fetal isolated cleft palate. Ultrasound Obstet Gynecol 2010; 36: 439-444
• 26 Lind K, Aubry MC, Belarbi N. et al. Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity. Prenat Diagn 2015; 35: 853-858
• 27 Wiechers C, Poets C, Hoopmann M. et al. Fetal Profile Markers for the Detection of Robin Sequence in Fetuses with Retrognathia. Ultraschall Med 2021;
• 28 Bronshtein M, Blazer S, Zalel Y. et al. Ultrasonographic diagnosis of glossoptosis in fetuses with Pierre Robin sequence in early and mid pregnancy. Am J Obstet Gynecol 2005; 193: 1561-1564
• 29 Ball JV, DiBiase DD, Sommerlad BC. Transverse maxillary arch changes with the use of preoperative orthopedics in unilateral cleft palate infants. Cleft Palate Craniofac J 1995; 32: 483-488
• 30 Winters JC, Hurwitz DJ. Presurgical orthopedics in the surgical management of unilateral cleft lip and palate. Plast Reconstr Surg 1995; 95: 755-764
• 31 Uzel A, Alparslan ZN. Long-term effects of presurgical infant orthopedics in patients with cleft lip and palate: a systematic review. Cleft Palate Craniofac J 2011; 48: 587-595
• 32 Mishima K, Sugahara T, Mori Y. et al. Three-dimensional comparison between the palatal forms in complete unilateral cleft lip and palate with and without Hotz plate from cheiloplasty to palatoplasty. Cleft Palate Craniofac J 1996; 33: 312-317
• 33 Hotz M, Gnoinski W. Comprehensive care of cleft lip and palate children at Zurich university: a preliminary report. Am J Orthod 1976; 70: 481-504
• 34 Weise C, Frank K, Wiechers C. et al. Intraoral scanning of neonates and infants with craniofacial disorders: feasibility, scanning duration, and clinical experience. European Journal of Orthodontics 2021; 1-8
• 35 Sillman J. Dimensional changes of the dental arches: longitudinal study from birth to 25 years. American Journal of Orthodontics 1964; 50: 824-842
• 36 Stahl F, Grabowski R, Gaebel M. et al. Relationship between occlusal findings and orofacial myofunctional status in primary and mixed dentition. Part II: Prevalence of orofacial dysfunctions. J Orofac Orthop 2007; 68: 74-90
• 37 Maull DJ, Grayson BH, Cutting CB. et al. Long-term effects of nasoalveolar molding on three-dimensional nasal shape in unilateral clefts. Cleft Palate Craniofac J 1999; 36: 391-397
• 38 Cohen MM. Robin sequences and complexes: causal heterogeneity and pathogenetic/phenotypic variability. Am J Med Genet 1999; 84: 311-315
• 39 Poets CF, Maas C, Buchenau W. et al. Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence. Orphanet Journal of Rare Diseases 2017; 12: 1-6
• 40 Bacher M, Sautermeister J, Urschitz MS. et al. An oral appliance with velar extension for treatment of obstructive sleep apnea in infants with Pierre Robin sequence. Cleft Palate Craniofac J 2011; 48: 331-336
• 41 Nicholson P, Plint D. A long-term study of rapid maxillary expansion and bone grafting in cleft lip and palate patients. The European Journal of Orthodontics 1989; 11: 186-192
• 42 Pucciarelli MGR, De Lima Toyoshima GH, Oliveira TM. et al. Assessment of dental arch stability after orthodontic treatment and oral rehabilitation in complete unilateral cleft lip and palate and non-clefts patients using 3D stereophotogrammetry. BMC Oral Health 2020; 20: 1-8
• 43 Meazzini MC, Corradi F, Mazzoleni F. et al. Circummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications. Cleft Palate Craniofac J 2021; 58: 299-305
• 44 Liou EJ-W, Tsai W-C. A new protocol for maxillary protraction in cleft patients: repetitive weekly protocol of alternate rapid maxillary expansions and constrictions. The Cleft palate-craniofacial journal 2005; 42: 121-127
• 45 Meazzini MC, Zappia LB, Tortora C. et al. Short-and long-term effects of late maxillary advancement with the Liou-Alt-RAMEC protocol in unilateral cleft lip and palate. The Cleft Palate-Craniofacial Journal 2019; 56: 159-167
• 46 Da Silva Filho OG, Teles SG, Ozawa TO. et al. Secondary bone graft and eruption of the permanent canine in patients with alveolar clefts: literature review and case report. The Angle Orthodontist 2000; 70: 174-178
• 47 Tanimoto K, Yanagida T, Tanne K. Orthodontic treatment with tooth transplantation for patients with cleft lip and palate. The Cleft palate-craniofacial journal 2010; 47: 499-506
• 48 Isono H, Kaida K, Hamada Y. et al. The reconstruction of bilateral clefts using endosseous implants after bone grafting. American journal of orthodontics and dentofacial orthopedics 2002; 121: 403-410
• 49 Oosterkamp BC, Dijkstra PU, Remmelink HJ. et al. Orthodontic space closure versus prosthetic replacement of missing upper lateral incisors in patients with bilateral cleft lip and palate. The Cleft palate-craniofacial journal 2010; 47: 591-596
• 50 Al-Tarawneh A, Alrbata R, Alazmi K. et al. Orthodontic management of craniofacial anomalies, a summary of the available options. International Journal of Dentistry and Oral Health 2016; 2: 1
• 51 Posnick JC, Taylor M. Skeletal stability and relapse patterns after Le Fort I osteotomy using miniplate fixation in patients with isolated cleft palate. Plast Reconstr Surg 1994; 94: 51-58 discussion 59–60
• 52 Matsuda A, Suda N, Motohashi N. et al. Skeletal characteristics and treatment outcome of five patients with Robin sequence. Angle Orthod 2006; 76: 898-908
• 53 Suri S, Ross RB, Tompson BD. Craniofacial morphology and adolescent facial growth in Pierre Robin sequence. Am J Orthod Dentofacial Orthop 2010; 137: 763-774
• 54 Wiechers C, Buchenau W, Arand J. et al. Mandibular growth in infants with Robin sequence treated with the Tübingen palatal plate. Head & Face Medicine 2019; 15: 1-8
• 55 Pfaff MJ, De Leon F, Le L. et al. Long-term orthognathic considerations in the Pierre Robin sequence patient. Plastic and Reconstructive Surgery 2020; 146: 599e-606e