共查询到20条相似文献,搜索用时 234 毫秒
1.
Kasat V 《Contemporary clinical dentistry》2011,2(3):245-248
Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS). It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female. 相似文献
2.
M Arvystas R J Shprintzen 《The Cleft palate-craniofacial journal》1991,28(2):226-30; discussion 230-1
Treacher Collins syndrome is a rare but well studied autosomal dominant craniofacial malformation syndrome. Most reports to date have focused on the facial morphology of this distinctive syndrome, but several more recent investigations have described abnormalities of the basicranium, mandible, and upper airway. The purpose of this report is to describe craniofacial morphology in a sample population of 12 patients with Treacher Collins syndrome. A special emphasis is placed on cranial base and mandibular structure because of the airway problems often encountered in this syndrome. 相似文献
3.
Posnick JC Tiwana PS Costello BJ 《Oral and maxillofacial surgery clinics of North America》2004,16(4):503-523
When contemplating the reconstructive options for patients with Treacher Collins syndrome, surgeons must recognize the complex interplay between growth of the craniofacial region and the possible effects of early surgery on further growth. Consequently, surgical procedures for the deformities in Treacher Collins syndrome are staged based on the dysmorphology and the growth velocity of each anatomic region. This article reviews the evaluation and management considerations for patients with Treacher Collins syndrome. 相似文献
4.
Pirinen S 《Acta odontologica Scandinavica》1998,56(6):356-359
Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate. 相似文献
5.
Magalhães MH da Silveira CB Moreira CR Cavalcanti MG 《Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics》2007,103(6):836-842
Mandibulofacial dysostosis (Treacher Collins Syndrome) is an autosomal dominant genetic disorder that probably derives from inhibition of the facial structures from the first and second branchial arches. The facial pattern of the syndrome is a convex facial profile with a prominent nose above a retruded chin. The eyes are deformed by antimongoloid slant of the palpebral fissures and facial bones are hypoplastic. The alterations are caused by mutation in gene 5q32-33.1, which encodes the nucleolar phosphoprotein treacle. Computed tomography images are able to demonstrate craniofacial bones, allowing the morphological analysis of these bones in individuals with complex deformities. The purpose of this paper is to present the results of a clinical and computed tomography investigation of two patients with Treacher Collins syndrome. 相似文献
6.
Nager acrofacial dysostosis is an extremely rare syndrome combining craniofacial features similar to Treacher Collins mandibulofacial dysostosis with the additional features of thumb and radial bone hypoplasia. The clinical and prognostic aspects of two unrelated infants with Nager acrofacila dysostosis are presented. A vigorous early intervention program of habilitation is described with emphasis on the facilitation of speech and language development in children with multiple morphological and developmental problems. 相似文献
7.
Stephen Bresnick John Walker Noreen Clarke-Sheehan John Reinisch 《The Cleft palate-craniofacial journal》2003,40(3):280-283
OBJECTIVE: Patients with Treacher Collins syndrome have abnormal vascular supply to the palate, yet it is unknown whether there are increased postoperative healing problems following palatoplasty. This study investigated the correlation between Treacher Collins syndrome and postoperative palatal fistula formation. DESIGN: Retrospective chart review was performed. PATIENTS: Children undergoing palatoplasty at Children's Hospital Los Angeles from 1987 to 2000 were evaluated. Ten children with Treacher Collins syndrome, 92 children with other syndromes and cleft palate, and 458 nonsyndromic patients with isolated cleft palate were studied. INTERVENTIONS: All children were treated with a one-stage, double-reversing Z-plasty cleft palate repair. MAIN OUTCOME MEASURES: Outcome measures included intraoperative observations of surgical anatomy and postoperative clinic follow-up of fistula formation. Palatal fistula rates between patients with Treacher Collins syndrome, other syndromes, and no syndrome were compared with chi-square analysis. RESULTS: Children with Treacher Collins syndrome had significantly greater palatal fistula rates (50%) than children with other syndromes (8.7%) or no syndrome (4.1%). Treacher Collins patients demonstrated large palatal fistulas and poor flap vascularity. CONCLUSIONS: Children with Treacher Collins syndrome and cleft palate have significantly higher palatal fistula risk than other children with cleft palate when double-reversing Z-plasty palate repair is performed. Our findings suggest that children with Treacher Collins syndrome and cleft palate may have poor vascularity to palatal flaps created during palatoplasty. Furthermore, we recommend that surgeons performing palatoplasty minimize the dissection of mucoperiosteal flaps around the greater palatine arterial pedicle and utilize closure techniques creating the least vascular disruption of palatal tissue. 相似文献
8.
Sawardekar A Jagannathan N Patel PK Nadkarni A 《The Journal of craniofacial surgery》2011,22(1):255-256
Children with Treacher Collins syndrome have multiple craniofacial abnormalities that can cause difficulty ventilating and intubating under general anesthesia. We describe a unique technique to secure an endotracheal tube via a retrograde technique using patent tracheocutaneous fistula and fiberoptic bronchoscopy. In this setting, the presence of a tracheocutaneous fistula spared tracheostomy in this patient. 相似文献
9.
Treacher Collins syndrome has been described as a syndrome involving 1st and 2nd branchial arches, affecting various organs in the craniofacial region. Affected infants report with nasal regurgitation and minimal dietary intake due to cleft palate, consequently show delayed and retarded growth. The situation is further complicated when the repair of the palatal defect is postponed due to delayed milestones. At this juncture, it is of paramount importance to intervene prosthetically and close the defect with the aid of an interim obturator. Herein we describe a simple, yet successful, chairside approach to make an impression of an infant without the aid of any kind of anesthesia. 相似文献
10.
The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly contributed to divorce, and involvement in the child's welfare. Using deformational posterior plagiocephaly as a control group, rates of divorce vs. non-divorce were compared for craniofacial anomalies, categorized as asymmetric (hemifacial microsomia, unilateral coronal synostosis, cleft lip, cleft lip/palate) or symmetric (syndromic-craniosynostosis, orbital hypertelorism, Treacher Collins syndrome). Major anomalies (hemifacial microsomia, craniosynostosis, orbital hypertelorism, Treacher Collins syndrome) were also compared to minor anomalies (cleft lip, cleft lip/palate). Surveys were sent to both parents in 412 families; 403 surveys were returned; and the results were evaluated in 275 families (67%). Frequency analysis demonstrated an overall divorce rate of 6.8% and 4.9% separation. Anomalies associated with the highest rate of divorce were hemifacial microsomia (24.0%), syndromic craniosynostosis (12.2%), and cleft lip/palate (6.8%). 79% of non-divorced couples reported a strong prenatal relationship, whereas 59% of divorced couples reported a problematic relationship. Following birth of the affected child, 47% of non-divorced couples responded that the bonds became stronger and 41% of divorced couples thought the relationship worsened. Two-sided Fisher exact test comparing control vs. all other anomalies showed significance (p=.030) for rates of divorce. Separation of anomalies into asymmetric vs. symmetric and major vs. minor categories demonstrated no significant difference in divorce rate (p>.05). The mother was more likely to become a child's primary caregiver following estrangement. 相似文献
11.
Hayashi T Sasaki S Oyama A Kawashima K Horiuchi K William M Yamamoto Y 《The Journal of craniofacial surgery》2007,18(1):113-119
Treacher Collins syndrome (TCS) is a congenital, craniofacial disorder affecting the development of structures derived from the first and second branchial arches. The associated clinical features and their severity are variable. Therefore, we reasoned that objective assessment of the clinical features and their severity in TCS is necessary to plan the treatment and to evaluate the outcome. We hereby propose a new grading system for Treacher Collins syndrome (TCS). Since 1978, 16 patients have been diagnosed with TCS. Eleven out of the 16 TCS patients, for whom we were able to estimate the severity of the clinical features in each region, and to make an objective assessment of the therapeutic outcomes, were selected. By allocating points according to the degree of severity of the clinical features in each region, then summing them up and categorizing them, we classified the overall clinical features into 3 grades. The severity increases from grades I to III. In summary, there were 3 patients of grade I, 4 patients of grade II and 4 patients of grade III. Distinctive differences regarding the degree of severity of the clinical features were clearly observed between each grade. We propose a new TCS grading system and applied it to 11 patients. We believe that this system may be useful for planning treatment and to evaluate the outcome in TCS patients. 相似文献
12.
The method of mean tensor analysis was used to study the cranial base in six craniofacial anomalies: Crouzon's disease, Apert's syndrome, Pfeiffer's syndrome, craniofacial microsomia (CFM), Treacher Collins (TC) syndrome, and frontonasal dysplasia (FND). The form was represented by five landmarks: the nasion (N), basion (Ba), sella (S), frontomaxillonasal suture (FMN), and sphenoethmoidal registration point (SE), and the deformities were computed as mean deformations from age- and sex-matched normal mean forms. The cranial base in CFM is normal in shape. The other five syndromes manifest four distinct patterns of shape variation. Only in TC and Pfeiffer's syndrome is the cranial-base angle distinctive. In Apert's and Crouzon's syndromes, point SE is displaced anteriorly upon a cranial base, small in size but otherwise normal in shape. In TC syndrome and FND, point SE is displaced posteriorly toward the sella. 相似文献
13.
《International journal of oral and maxillofacial surgery》2021,50(11):1471-1476
Treacher Collins syndrome (TCS) is a congenital malformation of the craniofacial structures derived from the first and second pharyngeal arches. The craniofacial deformities are well described in the literature. However, little is known about whether there are associated extracraniofacial anomalies. A retrospective study was conducted using data from four craniofacial units. Medical charts were reviewed for the presence and type of extracraniofacial anomalies, as well as age at diagnosis. A possible correlation between the severity of the phenotype and the presence of extracraniofacial anomalies was assessed using the Hayashi classification. A total of 248 patients with TCS were identified; 240 were confirmed to have TCS, of whom 61 (25.4%) were diagnosed with one or more extracraniofacial anomalies. Ninety-five different extracraniofacial anomalies were found; vertebral (n = 32) and cardiac (n = 13) anomalies were most frequently seen, followed by reproductive system (n = 11), central nervous system (n = 7), and limb (n = 7) anomalies. No correlations between tracts were found. Extracraniofacial anomalies were more prevalent in these patients with TCS compared to the general population (25.4% vs 0.001–2%, respectively). Furthermore, a positive trend was seen between the severity of the syndrome and the presence of extracraniofacial anomalies. A full clinical examination should be performed on any new TCS patient to detect any extracraniofacial anomalies on first encounter with the craniofacial team. 相似文献
14.
Fearon JA 《The Journal of craniofacial surgery》2008,19(1):110-112
The Tessier classification is the current standard for identifying and reporting rare craniofacial clefts. This numerically based system describes 16 different primary clefts, with additional possible combinations that can significantly raise the total number of potentially describable clefts. Problems with this system include a complexity that requires most surgeons to consult a diagram to describe the location of a cleft. In addition, the Tessier classification can include conditions that may not actually involve a true cleft such as frontonasal dysplasia, Treacher Collins syndrome, and craniofacial microsomia. A surgically based classification is proposed that includes only true clefts (eliminating hyperplasias, hypoplasias, and aplasias) and classifies these rare anomalies into 1 of 4 types based on anatomic regions: midline, median, orbital, and lateral. This simplified classification for craniofacial clefts, which is based on a different surgical paradigm appropriate to each regional location, enables surgeons to describe an observed cleft in such a way that others can easily visualize the location and have a starting point for formulating treatment decisions. 相似文献
15.
Plomp RG Bredero-Boelhouwer HH Joosten KF Wolvius EB Hoeve HL Poublon RM Mathijssen IM 《International journal of oral and maxillofacial surgery》2012,41(6):696-701
This cohort study in 35 patients (13 children) evaluates the prevalence, severity and anatomical cause of obstructive sleep apnoea syndrome (OSAS) in patients with Treacher Collins syndrome. Ambulatory polysomnography was performed cross-sectionally to determine OSAS prevalence and severity. All upper airway related surgical interventions were evaluated retrospectively. In 11 patients, sleep endoscopy, and flexible and rigid endoscopy were applied to determine the level of anatomical obstruction of the upper airway. The overall prevalence of OSAS in Treacher Collins patients was 46% (54% in children; 41% in adults). Thirty-eight upper airway related surgical interventions were performed in 17 patients. Examination of the upper airway revealed various anatomical levels of obstruction, from the nasal septum to the trachea. Most significant obstruction was found at the level of the oro/hypopharynx. OSAS in Treacher Collins patients is an important problem so all patients should be screened for OSAS by polysomnography. Endoscopy of the upper airways was helpful in determining the level of obstruction. Surgical treatment at one level will not resolve OSAS in most patients because OSAS in Treacher Collins has a multilevel origin. Non-invasive ventilation (continuous positive airway pressure or bilevel positive airway pressure) or tracheotomy should be considered as a treatment modality. 相似文献
16.
Application and comparison of techniques for three-dimensional analysis of craniofacial anomalies 总被引:1,自引:0,他引:1
Traditionally, cephalometric analysis has been limited to data determined from two-dimensional (2-D) cephalograms. With imaging facilities such as CT and biplanar radiography now available, the natural extension has been towards the use of three-dimensional (3-D) coordinate positions of landmarks for comparative purposes. While these data have been potentially available for several years, the accurate and reproducible extraction of anatomic landmarks suitable for comparative purposes has been limited. This paper presents results of the application of traditional comparative techniques to well determined 3-D coordinate data acquired from biplanar radiography and CT for a patient with Treacher Collins syndrome and further provides a comparison with the technique of strain analysis, often referred to as finite element analysis, which has been applied recently to craniofacial data. Comparisons of distances and angles between landmarks, landmark coordinate positions, and strains of the patient relative to experimental reference standards reveal that the essential skeletal features of Treacher Collins syndrome have been identified and quantified by the analysis techniques. Further, a measure of the significance of the deviations has been determined by comparisons with the experimental reference standards. 相似文献
17.
Carrie L Heike Anthony M Avellino Sohail K Mirza Yemiserach Kifle Jonathan Perkins Raymond Sze Mark Egbert Anne V Hing 《The Cleft palate-craniofacial journal》2007,44(3):340-346
The 22q11.2 deletion syndrome is characterized by wide phenotypic variability, frequently involving characteristic craniofacial features, cardiac malformations, and learning difficulties. Skeletal anomalies are also common and include an obtuse angle of the cranial base, retrognathia, and cervical spine abnormalities. Despite these anomalies, sleep-disturbed breathing is not reported frequently in patients with 22q11.2 deletion syndrome. We describe a patient with an obstructive sleep disturbance that was successfully treated with a tonsillectomy followed by mandibular distraction osteogenesis. She also had central sleep apnea, initially attributed to spinal cord impingement from cervical instability. Posterior cervical fusion was associated with a decrease in the number of central apneic events. 相似文献
18.
Treacher Collins综合征是以常染色体显性遗传为主要遗传方式的先天颅面畸形。由于神经嵴细胞和神经上皮细胞核糖体的生物合成受阻,神经嵴细胞迁移到颅面部的数量减少,引起第一、二鳃弓发育不全,导致疾病发生。目前明确的致病基因包括细胞质核糖体生物发生因子1(tcof1)、聚合酶Ⅰ亚基c(polr1c)和聚合酶Ⅰ亚基d(polr1d)。本文就目前针对该综合征的3个主要致病基因的遗传学研究和发病机制探索,以及该综合征的临床表现、预防及临床治疗策略作一综述。 相似文献
19.
Distraction osteogenesis of zygomatic bone grafts in a patient with Treacher Collins syndrome: a case report 总被引:1,自引:0,他引:1
Zygomatic aplasia in patients with Treacher Collins syndrome requires reconstruction with autogenous bone grafts. Serial bone grafting may be required if optimal malar projection is not achieved with the initial procedure. This report demonstrates the use of distraction osteogenesis in repositioning a previously bone-grafted zygoma in an adolescent patient with Treacher Collins syndrome, thus avoiding the need for repeat bone graft harvest. The limitations of this technique include difficulty in achieving the desired vector of distraction and the potential of graft devitalization. Nevertheless, the case report illustrates the versatility of distraction osteogenesis in skeletal augmentation/remodeling. 相似文献
20.
Treacher Collins综合征是以常染色体显性遗传为主要遗传方式的先天颅面畸形。由于神经嵴细胞和神经上皮细胞核糖体的生物合成受阻,神经嵴细胞迁移到颅面部的数量减少,引起第一、二鳃弓发育不全,导致疾病发生。目前明确的致病基因包括细胞质核糖体生物发生因子1(tcof1)、聚合酶Ⅰ亚基c(polr1c)和聚合酶Ⅰ亚基d(polr1d)。本文就目前针对该综合征的3个主要致病基因的遗传学研究和发病机制探索,以及该综合征的临床表现、预防及临床治疗策略作一综述。 相似文献