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At least 757 records · Page 42Linked to original sources
PubMed2002

Craniofacial titanium implants and chronic pain: histologic findings.

OBJECTIVE: To determine whether histologic features or histomorphometric outcomes of retrieved craniofacial percutaneous titanium implants could be found that could be related to chronic pain at the implant site in the temporal bone. STUDY DESIGN: Histologic investigation and histomorphometric measurements of seven retrieved titanium implants with surrounding bone tissue. SETTING: Tertiairy referral center. PATIENTS AND METHODS: Four patients who had previously received percutaneous titanium implants for auricular prostheses (1 patient) and a bone anchored hearing aid (three patients) had chronic pain at the implant site despite conservative treatment. The implants were retrieved, sectioned, and ground for qualitative light microscopic inspection and quantitative measurement of the bone-to-metal contact and bone area. RESULTS: Qualitative inspection of the sections of the implants demonstrated soft tissue zones at the interface, especially under the flange. Inflammatory cells were seen in the interface in all seven implants. In the implants with good bone-to-metal contact, the percentage of bone-to-metal contact rose with time. In the two implants with poor bone-to-metal contact, the soft tissue zones were more extensive, and slightly more skin reactions were observed than in the other implants while still in situ. CONCLUSION: A clear explanation for the chronic pain is not at hand. The only common histologic findings were the inflammatory cells present in the interface, but with varying density, and the presence of soft tissue zones. A variety of bone-to-metal was found among the retrieved implants.

Adolescent↗
PubMed2003

Molding of the regenerate in mandibular distraction: clinical experience.

Initial clinical experience with distraction osteogenesis has demonstrated the risk of developing postdistraction malocclusion that requires secondary orthodontic correction. In addition, optimal mandibular form is not always achieved. Both animal studies and preliminary clinical investigations have suggested that the regenerate can be successfully "molded" during active mandibular distraction. The authors have applied this concept clinically to obtain a more desirable occlusal relationship in a group of mandibular distraction patients. Eleven patients are described in whom angulation of the distraction device or intermaxillary/interdental elastics were employed to mold the regenerate. Two representative case studies are provided to illustrate the principles. When using elastic traction to close an anterior open bite, care must be taken that extrusion of individual teeth is minimized by distributing the force over the entire dental arch, especially the basilar portions of the jaws. The authors demonstrate that molding of the regenerate can be successfully accomplished not only during device activation but also early in the consolidation period. The outer limit of the time window in which molding is effective remains to be defined.

Adolescent↗
PubMed2006

Genioplasty distraction osteogenesis and hyoid advancement for correction of upper airway obstruction in patients with Treacher Collins and Nager syndromes.

BACKGROUND: Treacher Collins and Nager syndromes may present with mandibular hypoplasia that causes posterior collapse of the tongue base and a decreased oropharyngeal airway. Mandibular distraction and orthognathic advancement are effective treatments to correct the airway, but failure may occur despite achieving class I occlusion. For this select population, the authors propose a novel procedure of genioplasty distraction and hyoid advancement to optimize epiglottal positioning. METHODS: Patients diagnosed with Treacher Collins (n = 5) or Nager syndrome (n = 3) with obstructive sleep apnea or tracheostomy dependency (n = 8) underwent genioplasty distraction and hyoid advancement. Airway outcome was assessed by preoperative and 1-year follow-up comparison of (1) laryngobronchoscopy, (2) sleep studies, and (3) tracheostomy dependency. For genioplasty outcome, three groups were used: group I (distraction genioplasty, syndromic) (n = 8), group II (acute genioplasty, syndromic) (n = 7), and group III (acute genioplasty, nonsyndromic) (n = 10). Lateral cephalogram measurements were used in the preoperative, postoperative, and follow-up periods to assess horizontal and vertical advancement and relapse. RESULTS: Epiglottal position was optimized by the procedure in all patients based on direct endoscopic assessment. All five patients with obstructive sleep apnea had resolution of symptoms, and two of three patients achieved removal of their tracheostomy. Mean advancement for groups I, II, and III was 25, 14, and 8 mm, respectively. Follow-up horizontal advancement for groups I, II, and III were 18, 4, and 6 mm, respectively. Cephalometric measurements showed a horizontal relapse for groups I, II, and III of 10, 62, and 11 percent, respectively. CONCLUSIONS: Data suggest that genioplasty distraction allows for a greater advancement and decreased relapse rate than acute procedures alone; and genioplasty distraction with hyoid advancement is a useful technique for resolution of obstructive sleep apnea or to achieve tracheostomy removal in those syndromic patients who have already undergone mandibular advancement into a class I occlusion.

Adolescent↗
PubMed2006

Surgical treatment of Treacher Collins syndrome.

Morphology, genetic conditioning, terminology, and the principles of treatment of Treacher Collins syndrome have been presented on the basis of our own material, as well as review of literature. Fifty patients (27 males, 23 females) were operated on at the Hospital of Plastic Surgery in Polanica Zdrój from 1976 to 2005. The patients were first seen when they were from 1 to 32 years of age (mean, 7). The disease was hereditary in 17 patients, while the remaining subjects did not reveal any genetic conditioning. The lifesaving surgical treatment was undertaken in 4 children with the most severe form of the disease who presented with dyspnea and paroxysmal apnea. In those cases, the treatment aimed at improving the respiratory function by restoring patency of the nostrils and distraction of the mandible. Twelve patients were operated on for cleft palate between 1 and 2 years of age. Twelve patients had eyelid correction with the use of musculocutaneous flap transposition from the upper eyelid (Z-plasty). The zygomatic bone and lateral wall of the orbit were reconstructed by means of iliac bone grafts in 26 patients. The auricular reconstruction was usually undertaken after 10 years of age. Nine patients underwent bilateral auricular reconstruction by means of a modified Brent method. Fifteen patients aged 12-14 had chin osteotomy according to the Obwegeser method. Nasal osteotomy was performed in 10 patients with characteristic broad, long, and hooked noses, who were operated on after 16 years of age and after completion of orthognathic treatment. In total, 258 surgical procedures were performed in 50 patients, an average of 5.2 operations per every patient. Apart from a multistage surgical treatment, the patients required a combined multidisciplinary approach, mainly due to hearing impairment and occlusal disturbances. The obtained outcome of treatment, although far from being perfect, but still beneficial, confirmed the correctness of applied approach but at the same time pointed to the necessity of introducing new methods of treatment aiming, among others, at compensating for the tissue deficiency by means of tissue engineering.

Adolescent↗
PubMed2006

Craniofacial structures and dental development in three patients with Nager syndrome.

In Finland, 3 patients have been diagnosed with Nager syndrome (NS) during the last 17 years. Thus the incidence for NS in Finland is 3:1,000,000. The craniofacial structures and dental development of these patients were studied clinically and radiographically at the age of 3-4 years, and compared to age-matched controls and to the norms of the Finnish population. The striking structural finding was a severely short, retrognathic and posteriorly rotated mandible. Especially the ramus was deficient; its height was, on average, less than one-third of that of the control group. All children were tracheostomized neonatally. At the age of 3-4, the lower pharyngeal airway was still severely obstructed or completely closed. Nasopharyngeal airway was wide and the soft palate was missing in all patients. All patients had a complete deciduous dentition, but agenesis of permanent teeth (ranging from 2-10 missing teeth) was observed in each patient. Accelerated dental development was found in two subjects. Condylar ankylosis or severely limited mouth opening were observed. The present findings give new information and quantify earlier observations of craniofacial structures and dental development in NS. Analysis of facial structures suggests that if surgical intervention is needed to enable better breathing, the goal of the structural correction should be aimed at the most deficient structure, namely the ramus height. As a result of severe dentofacial deviation, a treatment process through the growth requires multidisciplinary teamwork of surgeons, pediatrists, orthodontists and prosthodontists.

Airway Obstruction↗
PubMedDate not supplied

Orthopaedic manifestations of Goldenhar syndrome.

Goldenhar syndrome-hemifacial microsomia has been studied extensively with regard to its typical asymmetric craniofacial manifestations but little attention has been paid to its orthopaedic findings. The cases of 23 patients with this syndrome were reviewed in conjunction with a review of the literature. Associated orthopedic abnormalities included mainly spinal anomalies, clubfoot, congenital dislocation of the hip, Sprengel's deformity, and radial limb defects.

Abnormalities, Multiple↗
PubMed2007

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

The differential diagnosis of syndromes with anomalies of the first and second branchial arches includes the oculo-auriculo-vertebral syndrome, the Treacher-Collins syndrome, the acrofacial dysostoses (including Nager and Miller syndromes), the dysgnathia complex and the auriculo-condylar syndrome. Isolated microtia may also be present with involvement of other facial structures and distant organs. We report here a patient with first and second branchial arch anomalies, born to consanguineous parents. Pertinent physical findings include severe micrognathia, absence of the upper portion of the helices, atresia of the external meati and absence of the middle ear ossicles, mildly down-slanting palpebral fissures and a highly arched palate with a submucous cleft. Discussion of the differential diagnosis highlights the clinical overlap between these conditions. This constellation of findings may represent a more severe manifestation of the auriculo-condylar syndrome or a previously undescribed syndrome.

Adolescent↗
PubMed1996

Transcriptional map of the Treacher Collins candidate gene region.

Treacher Collins syndrome (TCOF1) is a dominant disorder of craniofacial development that has been linked previosuly to a region of chromosome 5q31.3-32. Identification of recombination events in affected individuals has reduced the candidate gene region to a 0.5-Mb area between the loci RPS14 (proximal) and ANX6 [distal]. A transcriptional map of this candidate gene region, generated by analysis of exon amplification clones, has identified the genomic location of four genes, heparan sulfate-N-sulfotransferase-N-deacetylase, glutathione peroxidase, as well as two novel, previously uncharacterized genes. Each of these genes, based on their location, must be considered candidates for TCOF1 locus.

Amidohydrolases↗
PubMed1997

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. Recently, the demonstration of a series of 10 mutations within a partial-length cDNA clone have indicated that the TCS gene (TCOF1) has been positionally cloned. Although it has been shown that the gene is expressed in a wide variety of fetal and adult tissues, database sequence comparisons have failed to provide significant information on the function of the gene. In the current investigation, a combination of cDNA library screening and rapid amplification of cDNA ends has permitted the isolation of the complete coding sequence of TCOF1, which is encoded by 26 exons and predicts a low complexity, serine/alanine-rich protein of approximately 144 kD. The use of a variety of bioinformatics tools has resulted in the identification of repeated units within the gene, each of which maps onto an individual exon. The predicted protein Treacle contains numerous potential phosphorylaiton sites, a number of which map to similar positions within the repeated units, and shows weak but significant homology to the nucleolar phosphoproteins. Although the precise function of Treacle remains unknown, these observations suggest that phosphorylation may be important for its role in early embryonic development and that it may play a role in nucleolar-cytoplasmic shuttling. The information presented in this study will allow continued mutation analysis in families with a history of TCS and should facilitate continued experimentation to shed further light on the function of the gene/protein during development of the craniofacial complex.

Amino Acid Sequence↗
PubMed2006

Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins and 22q11 deletion syndromes.

The craniofacial complex is anatomically the most sophisticated part of the body. It houses all the major sensory organ systems and its origins are synonymous with vertebrate evolution. Of fundamental importance to craniofacial development is a specialized population of stem and progenitor cells, known as the neural crest, which generate the majority of the bone, cartilage, connective and peripheral nerve tissue in the head. Approximately one third of all congenital abnormalities exhibit craniofacial malformations and consequently, most craniofacial anomalies are considered to arise through primary defects in neural crest cell development. Recent advances however, have challenged this classical dogma, underscoring the influence of tissues with which the neural crest cells interact as the primary origin of patterning defects in craniofacial morphogenesis. In this review we discuss these neural crest cell interactions with mesoderm, endoderm and ectoderm in the head in the context of a better understanding of craniofacial malformations such as in Treacher Collins and 22q11 deletion syndromes.

Chromosome Deletion↗
PubMed1987

Retrograde intubation. Management of a 4.8-kg, 5-month infant.

An infant with Goldenhar's syndrome is presented in whom two-stage plastic surgery was undertaken. The first operation, at the age of 5 months, necessitated a retrograde technique for tracheal intubation while in the second, at 10 months of age, conventional intubation was possible. The discussion highlights those refinements that promote a successful outcome when retrograde intubation is indicated, particularly in infants.

Anesthesia, Inhalation↗
PubMed1990

Goldenhar's syndrome: an analysis of anaesthetic management. A retrospective study of seventeen cases.

Seventeen patients with Goldenhar's syndrome who had surgery 28 times are presented. Various authors have reported problems in the anaesthetic management of these patients, but we encountered significant difficulties in only one. Three anaesthetic techniques were used. A thorough pre-operative assessment with back-up facilities for difficult intubation are important. Additional cardiorespiratory and craniovertebral anomalies may necessitate modifications in the basic techniques.

Anesthesia↗