Treacher Collins Syndrome Research Articles

Review: Treacher Collins Syndrome: A Brief Review on Diagnostic Aids and Review of Literature with a Case Description

Review: Treacher Collins Syndrome: A Brief Review on Diagnostic Aids and Review of Literature with a Case Description

Identification of Possible Maternal Risk Factors for Development of Syndromic Oro-Facial Clefts

Context: The concept “epigenetics” highlights that environmental factors are able to trigger changes in gene activity. This confounds the search for aetiological factors of syndromic oro-facial clefts as it interplays between genetics and environmental stimulation. Subjects and Methods: The study makes use of a database of syndromic cleft patients over 33 years at the Department of Maxillo-Facial and Oral Surgery at the University of Pretoria. The ten most common clefting syndromes (Fairbairn-Robin triad, Demarque van der Woude syndrome, Holoprosencephaly, Naso-maxillo-acro dysostosis (Binder’s syndrome), Goldenhar syndrome, Treacher-Collins syndrome, Trisomy 13 (Patau’s syndrome), P63 Mutation associated clefting disorders, Trisomy 21 (Down’s syndrome), Oro-Facial Digital syndromes) were included amounting to 517 patients. The nine most common maternal risk factors (Unknown Infection, Viral Infection, HIV, Medication, Smoking, Alcohol, Oligohydramnios, Vitamins, Hormones) were included totaling 398. Results: Fairbairn-Robin triad had a significant correlation with oligohydramnios, infection and medication. Demarque-van der Woude syndrome presented with a significant contribution from medication and Holoprosencephaly showed a significant correlation with vitamin supplementation. Conclusion: based on the results of this study Fairbairn-Robin triad appears to have a strong environmental component to the presentation thereof. Demarque-van der Woude was indicated to having a genetic-environmental interplay contributing to the presentation of the syndrome.

Airway concerns in a neonate with Treacher Collins syndrome posted for tracheoesophageal fistula repair

Airway concerns in a neonate with Treacher Collins syndrome posted for tracheoesophageal fistula repair

Assessment of Bioabsorbable Hydroxyapatite for Cranial Defect in Children.

To evaluate the utility and efficacy of bioabsorbable hydroxyapatite and collagen complex (HA/Col) for cranioplasty repair of cranial bone defects in children. Two patients (a 6-year-old male and 11-year-old female) with Treacher Collins syndrome received zygoma and orbital floor reconstruction using a full thickness of parietal bone. The bone grafts were taken from each patient's parietal cranium. The right parietal cranial defect was repaired with autologous bone dust, and the left side was repaired with HA/Col in each patient. Computed tomography scans were taken immediately after and at 12 months following surgery. The osteosynthesis areas and thicknesses were measured using computer-aided engineering. Both patients experienced no complications, including infection. In the 6- and 11-year-old patients, the extent of osteosynthesis for HA/Col was 92.2% and 89.4%, respectively; and for the autologous bone dust was 78.5% and 53.2%, respectively. Because of the small sample size, a significant difference could not be calculated; however, the percentage of osteosynthesis for HA/Col was higher than for the autologous bone dust. This study showed that HA/Col can be effectively used in cranial defects and can be considered an alternative graft material for cranial reconstruction.

Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Treacher Collins syndrome (TCS) is an autosomal dominant disorder with variable expression in which the ear may or may not be absent or with a malformation. Individuals with TCS suffer social stigma that may affect interaction with their peers. Quality of life instruments obtained through self-perception questionnaires are stigma identification tools and can enable social adjustment of these individuals. This study aims to assess the quality of life of individuals with TCS and to gauge the impacts of ear deformity on the quality of life. Twelve volunteers with a clinical and genetic diagnosis of TCS answered the WHO quality of life questionnaire and were divided into groups with normal ears (n = 6) versus affected ears (n = 6), and their results were compared. Siviero's scale was used to stratify the quality of life scores as satisfactory, intermediate and unsatisfactory. The overall score of the normal ears group was 73.13 and 71.81 for the affected ears group, and both were classified as an intermediate quality of life, with no statistically significant differences between them. Ear deformity is not a burden to the quality of life of these individuals, who already show other deformities and overall intermediate quality of life scores.

NEUROREHABILITATION WITH PADOVAN METHOD IN A NEWBORN WITH TREACHER COLLINS SYNDROME: A CASE REPORT

Treacher Collins Syndrome (TCS) is an autosomal dominant disorder that leads to congenital craniofacial malformation, and may then be assisted by the Padovan Method® for neurological rehabilitation. That being said, the aim of this article is to report the functional improvements obtained by a patient with TCS who underwent the Padovan Method®. The child was born on november 26th of 2014, cesarean delivery, 37 weeks, Apgar 9/10, weighted 3625g, PC = 35cm, C = 49CM, presenting mild respiratory discomfort, absence of suction and the presence of syndromic facies, which is characteristic of TCS with retrognathism, oblique palpebral cleft downward divergent strabismus on left, pointed ears with cleft lobes, narrow auditory canal, malar hypoplasia and narrow palate. Padovan therapy was initiated at the 6th day of life, from orofacial, vestibular, ocular and motor exercises that seek to recapitulate the neuroevolutionary phases of human development with the purpose of propitiating a motor and neurological maturation of the central nervous system (CNS) and the correction of its possible failures. The child presented suction on the second day of therapy and on the fifth day was discharged from the hospital with good suction to the breast. The patient was followed up on an outpatient office and was given physiotherapy and speech therapy. The patient no longer received the Padovan Method® because at that time it was not available outside the hospital. Upon returning to childcare at age of 3, a good motor coordination performance was noticed, also speaking few loose words, but with good interaction and understanding. Therefore, due to the lack of standard behavior in neonatal neurological rehabilitation, considering the concepts of neuroplasticity andknowing the importance of early intervention, the Padovan Method® is shown as an alternative in the CNS reorganization in patients with TCS.

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

There is a wide variety of congenital syndromes that can involve the temporal bone. Many of these have overlapping features due to common embryologic abnormalities, such as first and second branchial anomalies. Diagnostic imaging is often important in the workup of hearing deficits related to congenital syndromes. This article reviews the imaging features of selected congenital syndromes with temporal bone abnormalities, including Treacher Collins syndrome, oculo-auriculo-vertebral dysplasia spectrum, Klippel-Feil syndrome, branchio-oto-renal syndrome, Pierre Robin sequence, CHARGE syndrome, Pendred syndrome, Down syndrome, Trisomy 18, Turner syndrome, and neurofibromatosis type 2.

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

Syndromic hearing loss accounts for approximately 30% of all cases of hearing loss due to genetic causes. Mutation screening in known genes is important because it potentially sheds light on the genetic etiology of hearing loss and helps in genetic counseling of families. In this study, we describe a customized Ion AmpliSeq Panel, specifically designed for the investigation of syndromic hearing loss. The Ion AmpliSeq Panel was customized to cover the coding sequences of 52 genes. Twenty-four patients were recruited: 17 patients with a clinical diagnosis of a known syndrome, and seven whose clinical signs did not allow identification of a syndrome. Of 24 patients sequenced, potentially causative mutations were found in nine, all of which belonged to the group with a previous clinical diagnostic and none in the group not clinically diagnosed. We were able to provide conclusive molecular diagnosis to six patients, constituting a diagnostic rate of 25% (6/24). In the group of patients with a suspected clinical diagnosis, the diagnostic rate was 35% (6/17). Of the nine different mutations identified, three are novel, and were found in patients with Waardenburg, Treacher Collins and CHARGE syndromes. Since all patients with a conclusive molecular diagnosis through this panel had a previous suspected clinical diagnosis, our results suggest that this panel was more effective in diagnosing this group of patients. Therefore, the panel demonstrated effectiveness in molecular diagnosis when compared to others in the literature, especially for patients with a defined clinical diagnosis.

Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome

To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome. Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. All coding regions of the TCOF1 gene were subjected to PCR amplification and Sanger sequencing. A novel mutation c.2261ins G (p.E95X) of the TCOF1 gene was discovered in the patient. The same mutation was not found in his parents and 100 healthy controls. The c.2261insG (p.E95X) mutation of the TCOF1 gene probably underlies the disease in the patient. Genetic testing can facilitate diagnosis and genetic counseling for families affected with TCS.

Normative Data of the Interorbital Distance in Thai Population.

The incidence of the patients with craniofacial anomalies was high in southeast-Asian countries, for example, fronto-ethmoidal encephalo-menigocele or craniosynostosis. These craniofacial anomalies usually involve orbits, so a surgical orbital reconstruction is always required.Various methods have been used in the past to indirectly analyze the craniofacial region. Plain skull radiography, anthropometry, and cephalometry provided the limited information of interorbital distance in terms of accuracy whereas the interorbital distance is crucial to be reconstructed, increasing or decreasing. The accurate normal interorbital distance which grows by age as other craniofacial structures is the important data in the part of interorbital and orbital reconstruction. To date, the normative data of the bony interorbital distance among Thai population have not been established.The purpose of this study is to provide normal values and the growth patterns of the bony interorbital distances and other dimensions of the orbit according to age among Thai population through the axial computed tomography. Comparisons can then be made between normal values and those for an individual patient or those for a group of patients, for example, those with front-ethmoidal meningoencephalocele, Crouzon, or Treacher-Collins syndrome, or among values for individual patients at different time intervals.A retrospective study of computed tomography (CT) scan series of 698 normal orbits from 349 skeletally normal subjects (202 men and 147 women) was enrolled. The age range of the patients was 0 to 21 years (mean, 10.2 years; SD, 5.8 years). A series of 12 measurements were obtained from the CT scans of each subject. All CT images were obtained from patients who underwent CT of the facial bone, brain, and orbits at the Department of Radiology of 3 big hospital in Bangkok-Ramathibodi, Samitivej Srinakarin, and Bangkok hospital-since 2010 to 2015.The normal measurement values in the orbital region through the CT images, as the normal periorbital growth curve, will help improving diagnostic accuracy, staging of reconstruction, precision of corrective surgery, and follow-up of the Thai patients with craniofacial abnormalities such as front-ethmoidal meningoencephalocele, hypertelorism. These data may also apply to the related population in the southeast-Asian countries.

Treacher Collins syndrome: a case report

Treacher Collins Syndrome or mandibulofacial dysostosis is a rare congenital malformation involving first and second branchial arches and presents several craniofacial deformities. The occurrence of this syndrome is estimated to range between 1 in 40,000 to 1 in 70,000 live births. The syndrome is characterized by anomalies of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures, coloboma of the lower eyelids and cleft palate. Here we report a case of Treacher Collins Syndrome with a narrative review of the clinical features, radiographic findings, differential diagnosis and various treatment options.

Treacher Collins Syndrome: A Case Report and Review of Literature

Treacher Collins Syndrome: A Case Report and Review of Literature

Patient-Reported Quality of Life in the Highest Functioning Patients With Treacher Collins Syndrome

Treacher Collins syndrome has a wide variation of clinical presentation, including airway obstruction and hearing loss. The objective of this study was to assess patient-rated quality of life in Treacher Collins syndrome, who received multidisciplinary treatment at a specialized craniofacial hospital, and to compare their quality of life with a control sample. Treacher Collins patients under treatment in a multidisciplinary setting were assessed with the World Health Organization Quality of Life (WHOQOL-100) questionnaire. The Siviero scale was used to classify quality of life as unsatisfactory (scores below 25), intermediate (scores between 25 and 75), and satisfactory (scores above 75). Quality of life comparison between Treacher Collins patients and 2342 unaffected individuals from a previous database was performed using the analysis of variance test. Differences were considered significant at P < 0.05. Treacher Collins patients demonstrated an overall intermediate and satisfactory (score >60%) quality of life in almost all WHOQOL-100 facets and domains. The comparison of the scores between unaffected individuals and Treacher Collins patients demonstrated a significant difference (P < 0.05) in the environment domain. The highest functioning Treacher Collins syndrome patients under multidisciplinary treatment presented intermediate and satisfactory quality of life, consistent with quality of life scores of unaffected controls. In the environment domain, Treacher Collins patients presented even higher scores of quality of life than the control group. Therapeutic, III.

Treacher Collins Syndrome and Tracheostomy: Decannulation Using Mandibular Distraction Osteogenesis.

Treacher Collins syndrome (TC) and Pierre Robin sequence (RS) are associated with hypoplastic mandible, glossoptosis, and consequent airway obstruction. Although TC and RS are often grouped together, airway outcomes of bilateral mandibular distraction osteogenesis (MDO) have not been specifically studied in TC. The purpose of this study is to report on the clinical outcomes of MDO in the TC patient population. A twenty-year single-institution retrospective review of all patients with TC who underwent bilateral MDO was performed. Twenty-four patients were identified after exclusion due to different diagnoses or insufficient medical records. Data on comorbidities, airway status, MDO operations, and complications were collected. Data were compared with published clinical outcomes in RS and data for 13 RS patients from our institution. Surgical success, defined as prevention of imminent tracheostomy or successful decannulation within 1 year after primary distraction, was observed in 21% of TC patients and 65% of RS patients (P = 0.01). Repeat distraction was necessary for 11 TC patients (46%) and 1 RS patient. Complications were divided into minor, moderate, and major based on need for invasive management. Overall, 67% of TC patients had complications, 20% of which were major. Clinical outcomes to airway function after MDO are significantly inferior in patients with TC compared with patients with RS. Repeat MDO and longer course to decannulation are more prevalent in patients affected by TC.

Familial Treacher Collins Syndrome: Report of 3 Cases

Treacher Collins syndrome (TCS) is a craniofacial developmental disorder of the first and second pharyngeal arches, with a high penetrance and variable expressivity related to malfunctions in migration of facial structures during embryonic development and TCOF1 gene mutation in approximately 90% of the cases. A 26-year-old man (patient 1) presented with bilateral hypoplasia of the zygomatic bone, palpebral fissures with lower eyelid coloboma, bilateral microtia, severe mandible micrognathia, and a convex facial profile. Further familial investigation led to patients 2 (34 years old) and 3 (38 years old), exhibiting mild but similar clinical features, indicating a broad phenotypic variability among the patients. These evidences clearly show an autosomal dominant familial pattern of TCS and its varied expression. The patients are currently being followed up by the local basic health unit.

Precision diagnosis and treatment for Treacher Collins syndrome:clinical perspectives

Precision diagnosis and treatment for Treacher Collins syndrome:clinical perspectives

Identification of a novel TCOF1 mutation in a Chinese family with Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a severe congenital disorder characterized by craniofacial malformations, including cleft palate, hypoplasia of the facial bones, downward slanting of the palpebral fissures and malformation of the external and middle ear. Worldwide, 90% of cases of TCS are caused by mutations in the TCOF1 gene, which are inherited via an autosomal dominant pattern, while <2% cases are caused by POLR1D and POLR1C genes, which are inherited via autosomal dominant and autosomal recessive patterns, respectively. The present study describes the clinical findings and molecular diagnostics of a Chinese family with TCS. TCS was diagnosed in a 9-year-old female Chinese proband and her mother, while no craniofacial abnormalities were apparent in other family members. Exons of the TCOF1 gene and segregation analysis were used to examine causative mutations using the Sanger sequencing approach. A single novel heterozygous mutation in TCOF1 exon 3 splicing site c.165-1G>A was detected in the proband. Furthermore, the same mutation was identified in her mother, but not in other family members. These results suggest that c.165-1G>A is a novel heterozygous mutation of the TCOF1 gene that caused the development of TCS in the proband and her mother. The TCOF1 mutation that was identified in proband was inherited from her mother and so can be considered as de novo mutation.

Active Transcutaneous Bone Conduction Implant: Middle Fossa Placement Technique in Children With Bilateral Microtia and External Auditory Canal Atresia.

The aim of this study is to present the middle fossa technique (MFT) as an alternative for patients who cannot undergo traditional surgery for active transcutaneous bone conduction implants (ATBCI) due to their altered anatomy or desire for future aesthetic reconstruction. A case series descriptive study was designed. The MFT was developed. Preoperative and postoperative information from 24 patients with external auditory canal atresia (EACA) and implanted with ATBCI was reviewed. A total of 24 children with bilateral EACA received implants in the middle cranial fossa. Their average age was 12. Of these patients, eight had an associated congenital disorder: Goldenhar Syndrome, Treacher Collins Syndrome or the Pierre Robin Sequence. The average follow-up was at 17 months (ranging from between 2- and 36 mo) and there were no major complications. Four patients showed skin erythema at the processor site after turn on, which was solved by lowering the magnet strength. One patient had a scalp hematoma that required puncture drainage. The hearing thresholds went down on average from 66.5 to 25.2 dB 1 month after turn on. Speech recognition improved respectively from 29.4% without and 78.9% with a bone conduction hearing aid to 96.4%. MFT placement of the ATBCI was proven to be safe and effective and a viable option for treating pediatric patients with EACA who cannot receive implants at the sinodural angle or in the retrosigmoidal position because of their altered anatomy and/or desire for future aesthetic reconstruction.

Evaluation of RNA Polymerase I Subunit C gene (POLR1C) as prognostic biomarker in cancer.

e24325Background: POLR1C is a gene encoding a subunit common to RNA polymerases I and III. Currently, mutations in this gene are known have been associated with Treacher Collins Syndrome and hypomy...

Contouring of zygomatic soft tissue using bilateral free groin flaps in a Treacher Collins syndrome patient.

Treacher Collins syndrome is a congenital disorder that is characterized with a wide range of cranio-facial deformities. Zygomatic hypoplasia or aplasia is one of the key features, and surgical reconstruction of the consequent depression on the zygomatic area is deemed necessary by many patients. Various surgical options are available—injectables, alloplastic materials, autologous grafting, and autogenous tissue transfer. It depends on each patient which technique to use. Here, we present a clinical case, in which bilateral free groin flaps were adopted in attempt to resolve the remnant aesthetic deformity associated with zygomatic depression, despite a series of previous surgical efforts, in a 25-year-old Treacher Collins syndrome male patient.