The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery

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

The importance of a differential diagnosis between true hemifacial microsomia and pseudo-hemifacial microsomia in the post-surgical long-term prognosis.

Long-term results after surgical treatment of the mandibular asymmetry in growing children with hemifacial microsomia (HFM), whether with osteotomies or distraction osteogenesis, have mostly shown a tendency towards the recurrence of the asymmetry. In contrast, in the literature we find sporadic case reports where the long-term post-surgical follow-up of patients diagnosed as HFM, are surprisingly stable. All these reports refer to patients who have substantially no soft tissue involvement, but only severe mandibular ramus and condyle deformities. The phenotypes of these cases are unexpectedly similar. The authors suggest, that it is possible that all of these cases might be isolated hemimandibular hypoplasias, misdiagnosed as HFM, which present a normal functional matrix and, therefore, tend to grow towards the original symmetry. Differential diagnosis between true HFM and this HFM-like isolated hemimandibular hypoplasia (pseudo-HFM) is of great importance given the very different prognosis and it is possible through the collaboration between not only surgeons and orthodontists, but also of geneticists and dysmorphologists

True hemifacial microsomia and hemimandibular hypoplasia with condylar-coronoid collapse: diagnostic and prognostic differences.

Introduction: Long-term results after orthopedic or surgical treatment of hemifacial microsomia (HFM) have shown a tendency toward recurrence of the facial asymmetry. However, the literature contains a number of successful case reports that show surprising changes in the morphology of the condyles. In addition, patients with similar mandibular asymmetries, treated early with surgery, have excellent long-term follow-ups, especially those who have little or no soft-tissue involvement, but only severe mandibular ramal deformities. The phenotypes of these cases are unexpectedly similar, with a consistent collapse of the condyle against the coronoid and a deep sigmoid notch. The objectives of this article were to help distinguish true HFM from this peculiar type of hemimandibular asymmetry morphologically and to quantify their differences before treatement and in the long term. Methods: Panoramic radiographs taken at pretreatment and the long-term follow-up of 9 patients with hemimandibular hypoplasia, characterized by the collapse of the condyle against the coronoid, were compared with those of 8 patients with severe type I and type II HFM; these records were collected before and at least 10 years after distraction osteogenesis. Results: Ratios and angular measurements before and after treatment differed significantly between the 2 groups. Conclusions: Perhaps these patients were misdiagnosed and actually had secondary injuries of the condyle, which have a normal functional matrix. Therefore, with growth and functional stimulation, they would tend to grow toward the original symmetry. To make a differential diagnosis between true HFM and this peculiar type of hemimandibular hypoplasia, the collaboration between not only orthodontists and surgeons, but also geneticists and dysmorphologists, is of great importance because of the different prognoses. Copyright © 2011 by the American Association of Orthodontists

True hemifacial microsomia and hemimandibular hypoplasia with condylar-coronoid collapse: Diagnostic and prognostic differences

Introduction: Long-term results after orthopedic or surgical treatment of hemifacial microsomia (HFM) have shown a tendency toward recurrence of the facial asymmetry. However, the literature contains a number of successful case reports that show surprising changes in the morphology of the condyles. In addition, patients with similar mandibular asymmetries, treated early with surgery, have excellent long-term follow-ups, especially those who have little or no soft-tissue involvement, but only severe mandibular ramal deformities. The phenotypes of these cases are unexpectedly similar, with a consistent collapse of the condyle against the coronoid and a deep sigmoid notch. The objectives of this article were to help distinguish true HFM from this peculiar type of hemimandibular asymmetry morphologically and to quantify their differences before treatement and in the long term. Methods: Panoramic radiographs taken at pretreatment and the long-term follow-up of 9 patients with hemimandibular hypoplasia, characterized by the collapse of the condyle against the coronoid, were compared with those of 8 patients with severe type I and type II HFM; these records were collected before and at least 10 years after distraction osteogenesis. Results: Ratios and angular measurements before and after treatment differed significantly between the 2 groups. Conclusions: Perhaps these patients were misdiagnosed and actually had secondary injuries of the condyle, which have a normal functional matrix. Therefore, with growth and functional stimulation, they would tend to grow toward the original symmetry. To make a differential diagnosis between true HFM and this peculiar type of hemimandibular hypoplasia, the collaboration between not only orthodontists and surgeons, but also geneticists and dysmorphologists, is of great importance because of the different prognoses. (Am J Orthod Dentofacial Orthop 2011;139:e435-e447