Opitz (BBB/G) syndrome: oral manifestations.

We studied a new case of the G (Opitz BBB/G) syndrome in a 12-year-old boy. Several relatives had partial manifestations of the disorder. A comprehensive dental evaluation of the propositus was conducted; included is, to our knowledge, the first published cephalometric analysis of a G syndrome patient. We reviewed 139 cases of the G syndrome; 48 of them had at least one oral abnormality. These included clefting, micrognathia, ankyloglossia, and high-arched palate. Male G syndrome patients are more likely to have oral anomalies than affected females.

The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature.

An unusual, isolated case of the Rieger anomaly coincident with a multitude of dental, craniofacial, and systemic anomalies is described. Significant dental findings were severe enamel hypoplasia, conical and misshapen teeth, hypodontia, and impactions. Craniofacial disorders were underdevelopment of the maxilla, mandible, and anterior and posterior cranial bases, low-set ears, and a wide nasal bridge. Reported for the first time is the association of this genetic disorder with bilateral microcondyles and bilateral choanal atresia. Embryologic disturbance of the neural crest ectoderm is suspected. The patient also manifested anal atresia, scoliosis, kyphosis, and short stature. A discussion distinguishing this case report from the Rieger syndrome is presented. In addition, the possibility that the patient exhibited a previously unreported syndrome is also considered, and the term Short-F-R-A-M-E is proposed to name this new syndrome.

Dental development and the pharyngeal lymphoid tissue.

Because the teeth are housed and develop within the jaws, skeletal development of the maxilla and mandible is a primary factor in the consideration of any problems pertaining to the developing dentition. Growth of the posterior nasal choanae, the maxilla, and the nasopharynx should be evaluated as a unit in assessing the favorable or unfavorable character of the nasopharyngeal region. Both large and small adenoidal tissues should be examined in light of the morphologic character of the nasopharynx (be it small, large, narrow, or wide) and related to the developing maxilla. Variables in size and location of the maxilla and the pharynx will play an important role in the impact that lymphoid tissue will have on the patency of the nasopharyngeal isthmus. Synchronized growth between the normally developing adenoids and the migration of the maxilla away from the cranial base will produce a balanced environment that precludes nasal obstruction by the presence of adenoids. With time, the changes in spatial relationships between the posterior border of the maxilla and the posterior pharyngeal wall plus atrophy of the adenoidal tissue will generally minimize or eliminate the problems of nasal obstruction and mouth breathing. Growth data may be used to evaluate the status, assess progress, measure comparability, determine inheritance patterns, and confer individuality. Unit-trait inheritance of the teeth, alveolar processes, maxilla, mandible, soft-tissue profile, tongue, pharynx, and lymphoid tissues may well produce more definitive answers to the question of the developing dentition and the pharyngeal lymphoid tissue. Finally, at present, no clinician can categorically state that enlarged tonsils or adenoids per se are responsible for abnormal dentition in the absence of other factors.

Resection of a giant ossifying fibroma through an intraoral approach in a 9-year-old child: immediate reconstruction and 6-year cephalometric follow-up.

An unusual opportunity was afforded to study the growth and development of the facial structures of a 9-year-old child who underwent major mandibular reconstruction. The longitudinal studies confirmed the present concepts of the factors responsible for mandibular growth as well as their repercussions on other facial structures. An intraoral subperiosteal resection of a major portion of the right hemimandible sparing the upper part of the mandibular ramus was required to eradicate a large ossifying fibroma. An iliac bone graft consisting of the outer table of cortical bone and cancellous bone was placed within the mucoperiosteal sac to repair the defect. It also was used to control the ramus remnant. The patient was followed for 6 years. The growth of the reconstructed mandible was in effect nearly symmetrical with the unaffected contralateral portion of the mandible, resulting in minimal facial asymmetry. The mucoperiosteum provided a vascular bed for the bone graft and the buccal sulcus was preserved, thus providing a retentive ridge and sulcus for a denture without the need to perform a skin or mucosal graft inlay procedure. The symmetrical growth of the mandible is attributed to the growth of the ramus by remodeling, resorption, deposition, and relocation and by the muscle-bone interface (the functional matrix).

Early and late surgery in craniofacial dysostosis: a longitudinal cephalometric study.

Longitudinal clinical and cephalometric case studies are presented for two groups of patients with craniofacial dysostosis. The first sample includes two infants who underwent an extensive stripping procedure that was extended inferiorly to involve not only the coronal, but also the sphenozygomatic suture. The second sample includes two adolescents with midfacial hypoplasia who underwent a fronto-orbital-maxillary advancement. The extensive cranial stripping procedure had a favourable impact upon growth and development of the craniofacial structures, and longitudinal studies suggest the importance of promoting the growth potential of the bones contiguous to the affected sutures. Craniofacial surgery performed on adolescents results in a dramatic translocation of the skeletal and soft-tissue structures of the face. In contrast to early surgical intervention in infants in whom growth of the effected areas essential to the development of face and cranium was crucial, late surgery appeared to have little, if any, impact upon the development of the craniofacial skeletal structures that had been operated on.

Velopharyngeal function following maxillary advancement.

In a series of 40 patients who had maxillary advancements, none developed velopharyngeal incompetence. Unlike the cleft palate patient who is more at risk, there are distinct anatomical characteristics in craniofacial dysostosis which favor maintenance of the integrity of the velopharyngeal mechanism. Hyponasality was eliminated in 5 patients with Crouzon's disease. On cephalometric study, it was observed that after maxillary advancement the nasopharyngeal volume was expanded and the angle formed by the hard and soft palates was increased. On phonating cephalograms, the velopharyngeal contact became more physiological after maxillary advancement in the craniofacial dysostosis patient. The only postoperative articulatory changes after maxillary advancement were in the production of the /s/ sound, which is particularly sensitive to changes in dentoalveolar relationships.

Prophylactic craniofacial surgery.

One-stage radical reconstructive surgery for the common craniofacial deformities has become standard procedure in a few medical centers. With increasing experience and expertise, young children and adolescents, as well as a few adults have been greatly benefited. It has long been recognized that both the cranial and facial deformities of Couzon's disease and Apert's syndrome are progressive, having their inception either before birth or in the neonatal period, and evolving to the full blown syndrome during the first years of life. The authors believe that the progressive nature of these anomalies is secondary to a combination of permaturely fused sutures of the calvarium and cranial base (coronal, sphenozygomatic, frontoethmoidal and frontosphenoidal). In an effort to arrest and correct both the cranial and facial deformities as well as obviate the need for future radical surgery the authors have treated several children with Crouzon's disease and Apert's syndrome with suture craniectomy along the base of the skull. Following this procedure, deformity has regressed and ultimate cosmetic improvement has been dramatic. It is unlikely that radical craniofacial surgery will be necessary in this group of patients at any future time. On the basis of this experience, it is believed that the pendulum is now swinging and that in the future, stripping of the appropriate sutures along the base of the skull will limit deformity and make additional surgery unnecessary.

Early skeletal release in the infant with craniofacial dysostosis: the role of the sphenozygomatic suture.

We describe our experience with early skeletal release in 10 infants with craniofacial dysostosis. The cranial base is the key to the deformity, and we extend the release toward it as well as resecting strips from the calvarium. Three procedures are described. The early results are encouraging.

Antegonial notching of the mandible: an often overlooked mandibular deformity in congenital and acquired disorders.

Mandibular antegonial notching is a concavity of the undersurface of the body just anterior to the angular process (gonion) seen in congenital and acquired disorders. The notch tends to be longer in the congenital than in the acquired state, and the ascending ramus is at a more obtuse angle to the body.

Retrospective cephalometric analysis of mandibular bone absorption under silicone rubber chin implants.

A longitudinal study was conducted on 85 patients who received silicone rubber implants to the chin. Over half of these patients were found to have some absorption of the bone beneath the implants, and much other information was obtained. There were no concomitant changes in the soft tissue profile in the patients who demonstrated bone absorption under their implants. It appeared that the bone absorption was less when the implant was placed over the hard bone of the lower part of the mandible, rather than higher or over alveolar bone.

Diagnosis and treatment of maxillomandibular dysplasias.

Skeletal dysplasia of the maxilla and/or mandible is responsible for prognathism or retrognathism. The severity of either condition is in direct proportion to the degree of dysplasia noted within each jaw. Mandibular prognathism is real or apparent. Some of the patients described in this article demonstrate this quite clearly when the jaws are analyzed individually and related to each other. A differential diagnosis is essential to determine whether the abnormality is in the maxilla or the mandible, or both. When recognized early in the formative years, it permits the orthodontist to employ guidance and full therapy procedures in a treatment plan that is programmed to include surgical procedures specifically for the skeletal aberration to be corrected. The treatment skills of the orthodontist and his knowledge of growth of the skeletal and dental structures aid in diagnosis and treatment planning in the areas of both orthodontics and surgery. Close cooperation between the orthodontist and the surgeon permits a more definitive resolution of the existing and potential skeletal and dentoalveolar abnormalities.

Clinical and radiographic variations in hemifacial microsomia.

Variations expressed clinically and radiographically in hemifacial microsomia preclude classifying all the abnormalities as coming from the first and second branchial arches. Anatomic structures arising from the branchial arches are directly involved but the final expression results from the combined impact of the primary anatomic defect and the secondary effects on contiguous structures. The deformities resulting from the latter are probably due to abnormal neuromuscular function.