Abstract
In the PubMed accessible literature, information on the characteristics of interdisciplinary orthodontic and surgical treatment of patients with Apert syndrome is rare. The aim of the present article is threefold: (1) to show the spectrum of the phenotype, in order (2) to elucidate the scope of hindrances to orthodontic treatment, and (3) to demonstrate the problems of surgery and interdisciplinary approach.Children and adolescents who were born in 1985 or later, who were diagnosed with Apert syndrome, and who sought consultation or treatment at the Departments of Orthodontics or Craniomaxillofacial Surgery at the Dental School of the University Hospital of Münster (n = 22; 9 male, 13 female) were screened. Exemplarily, three of these patients (2 male, 1 female), seeking interdisciplinary (both orthodontic and surgical treatment) are presented. Orthodontic treatment before surgery was performed by one experienced orthodontist (AH), and orthognathic surgery was performed by one experienced surgeon (UJ), who diagnosed the syndrome according to the criteria listed in OMIM™.In the sagittal plane, the patients suffered from a mild to a very severe Angle Class III malocclusion, which was sometimes compensated by the inclination of the lower incisors; in the vertical dimension from an open bite; and transversally from a single tooth in crossbite to a circular crossbite. All patients showed dentitio tarda, some impaction, partial eruption, idopathic root resorption, transposition or other aberrations in the position of the tooth germs, and severe crowding, with sometimes parallel molar tooth buds in each quarter of the upper jaw.Because of the severity of malocclusion, orthodontic treatment needed to be performed with fixed appliances, and mainly with superelastic wires. The therapy was hampered with respect to positioning of bands and brackets because of incomplete tooth eruption, dense gingiva, and mucopolysaccharide ridges. Some teeth did not move, or moved insufficiently (especially with respect to rotations and torque) irrespective of surgical procedures or orthodontic mechanics and materials applied, and without prognostic factors indicating these problems. Establishing occlusal contact of all teeth was difficult. Tooth movement was generally retarded, increasing the duration of orthodontic treatment. Planning of extractions was different from that of patients without this syndrome.In one patient, the sole surgical procedure after orthodontic treatment with fixed appliances in the maxilla and mandible was a genioplasty. Most patients needed two- jaw surgery (bilateral sagittal split osteotomy [BSSO] with mandibular setback and distraction in the maxilla). During the period of distraction, the orthodontist guided the maxilla into final position by means of bite planes and intermaxillary elastics.To our knowledge, this is the first article in the PubMed accessible literature describing the problems with respect to interdisciplinary orthodontic and surgical procedures. Although the treatment results are not perfect, patients undergoing these procedures benefit esthetically to a high degree.Patients need to be informed with respect to the different kinds of extractions that need to be performed, the increased treatment time, and the results, which may be reached using realistic expectations.
Highlights
Apert syndrome, which was well described by a number of authors earlier [1,2] is a rare congenital anomaly, appearing with a frequency of 1 in 55,000 to 90,909 live births [1,3,4] is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2) [5]
Three of these patients (2 male, 1 female), seeking interdisciplinary were chosen because their malocclusions were representative of the whole clinical spectrum of Apert syndrome and their treatment at stages 3–5 (Table 1) covered the whole therapeutic spectrum, ranging from orthodontic treatment and genioplasty only to two-jaw surgery with distraction (Table 2)
*These patients were chosen exemplarily because their malocclusions were representative of the whole clinical spectrum of Apert syndrome and their treatment at stages 3–5 covered the whole therapeutic spectrum ranging from orthodontic treatment and genioplasty exclusively to 2-jaw surgery with distraction. † BSSO = bilateral sagittal split osteotomy
Summary
Apert syndrome, which was well described by a number of authors earlier [1,2] is a rare congenital anomaly, appearing with a frequency of 1 in 55,000 to 90,909 live births [1,3,4] is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2) [5].Externally, this progessive disease of growth is characterized by acrocephaly, syndactyly, and typical features in the orofacial region [6].The morphological defects may induce functional defects, such as sleep apnea, disturbances of breathing, feeding, speech [17], and lip closure [7].Despite the intrasyndromic similarities, there is a high degree of variable phenotypical expression [4,10,18].The aim of the present case study is to show- the clinical variablity of Apert syndrome (spectrum of the phenotype), The lips are crossbow-shaped or trapezoidal, and the lower lip may seem to protrude [7].The midface is retruded, which is already marked at birth [8]. Apert syndrome, which was well described by a number of authors earlier [1,2] is a rare congenital anomaly, appearing with a frequency of 1 in 55,000 to 90,909 live births [1,3,4] is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2) [5]. This progessive disease of growth is characterized by acrocephaly, syndactyly, and typical features in the orofacial region [6]. The Class III discrepancy is progressive [9], the maxilla is hypoplastic [10] in all three dimensions, [7] and anteriorly there is edge-to-edge contact or an open bite [8,11,12]
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