Case Of Treacher Collins Syndrome Research Articles

A description of Treacher Collins Syndrome in a Yemeni child. A case report

This article reports a mild case of Treacher Collins syndrome (TCS) in a ten years old child coming to the dental clinic in Ibb University from a distant rural area in Yemen. We described thoroughly the signs & symptoms of the case and proposed a treatment plane that we aimed to be followed .The purpose of this paper is to give informations about this malady because they are absent in medical literatures of this country and to bring medical staff attention to this rare condition.

Hearing Loss in Treacher-Collins Syndrome

Abstract Treacher Collins Syndrome is a craniofacial disorder that has dominant autosomal disorder in facial development, found 1 in every 50,000 births. The common manifestations can be mandibulofacial disorder, microtia, atresia of the ear canal, and hearing loss. This syndrome is also accompanied by malformations of the ossicular chain of bone in the middle ear, which can lead to conductive hearing loss up to 50% of cases and sensory neural hearing loss. The aim of this report was to present one case of Treacher-Collins Syndrome at the Audiology - Vestibular clinic Dr. Hasan Sadikin General Hospital Bandung. The main complaint of the patient is micrognathia and microtia with hearing loss in both ears. The right ear is smaller than the left ear, and supported to 2nd grade of Microtia. The patient had performed reconstruction ear surgery in the right ear, and had improvement from audiological examination after the 2nd stage of reconstruction. There was TCOF 1 gene mutation involved from this case. Conclusion: Treacher Collins syndrome is a rare inherited disorder, but the diagnose can be easily enforced. Early intervention with hearing rehabilitation, audio-verbal rehabilitation, and reconstruction ear surgery must be carried out for a better quality of life. Keyword : Treacher collins syndrome, micrognathia, microtia, hearing loss

A Case of Treacher Collins Syndrome with Odontogenic Infection Following Augmentation Genioplasty Using Silicone Implant

A Case of Treacher Collins Syndrome with Odontogenic Infection Following Augmentation Genioplasty Using Silicone Implant

Extreme Manifestation of a Familial Case of Treacher Collins Syndrome in an Infant with Arhinia, Eyelid Colobomas and Single Kidney

Extreme Manifestation of a Familial Case of Treacher Collins Syndrome in an Infant with Arhinia, Eyelid Colobomas and Single Kidney

Genotype-phenotype variability in Chinese cases of Treacher Collins syndrome

Background: Treacher Collins syndrome (TCS) is a clinically and genetically heterogeneous disorder of craniofacial development mainly caused by variants in TCOF1, POLR1D, and POLR1C.Objectives: This study examined the causative genes of five TCS cases.Materials and Methods: In this study, two familial cases and three sporadic cases clinically diagonsed with TCS are described. Mutational analysis in probands was performed by targeted next-generation sequencing (NGS). Mutations identified by NGS were further confirmed by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).Results: A novel gross deletion (exons 9–13), a novel small deletion (c.381_382delAG), and two known deletions (c.4131_4135delAAAAG and c.2394_2395delAG) within TCOF1 as well as a known mutation (c.91C > T) in POLR1D were identified. These five cases exhibited high inter- and intra-familial phenotypic heterogeneity.Conclusion: This is the first report of Chinese TCS cases caused by a gross deletion within TCOF1 and mutations in POLR1D. In addition to expanding the spectrum of TCS-associated mutation in the Chinese population, our findings present the diversity of its clinical presentation. It is recommended that analyses such as NGS or MLPA capable of detecting large deletions be undertaken as a part of TCS molecular diagnosis.

Dental Treatment of a Patient with Treacher Collins Syndrome Under General Anaesthesia: A Case Report

This article reports a case of Treacher Collins syndrome (TCS) in a five-year-old male patient treated in Kırıkkale University, Department of Pediatric Dentistry. We defined the clinic signs and symptoms of the case and suggested a treatment plan. Treatment procedures for malformations caused by the syndrome should be planned and performed specifically for the patient. In our patient with low treatment compliance, dental examination, filling and partial prosthesis treatment was successfully applied under general anesthesia.

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.

Microtia: A Combined Approach by Genetics and Audiology

Abstract Microtia is a condition in which the external portion of the ear (the auricle) is malformed. In the strictest definition, there is also narrowing or absence of the external auditory canal (external auditory meatus). Microtia varies in severity from barely discernible to an external ear with major structural changes. Hearing loss is a common feature that can be associated with microtia. There are different types of hearing loss–conductive, sensorineural, or mixed–depending on which part of the ear is not working as it should. The present study was designed with the following aims: (i) identification of the genetic etiology and patterns of inheritance of microtia for proper genetic counseling; (ii) early detection and identification of associated hearing impairment for proper management including use of a hearing aid and surgical intervention. Twenty children with microtia ranging in age between 1 and 15 years (mean: 6.2 ± 3.68 years) irrespective of sex were included in this study: 14 males and six females. All children were subjected to a full assessment of medical history, a general examination, an ENT examination, tympanometry, pure tone audiometry, and an auditory steady-state response test for patients not responding to a conventional audiometric test. Karyotyping, fluorescence in-situ hybridization (FISH) for Treacher Collins cases, radiological investigations, and fundus examination were also performed. Syndromic microtia was more frequent than nonsyndromic microtia. Treacher Collins syndrome was the most clinically diagnosed syndrome, followed by Goldenhar’s syndrome. There was one case of Down’s syndrome and another single case of Johnson–McMillin syndrome. Meatal atresia and preauricular tags were frequently present in the microtia cases, whereas middle ear and inner ear anomalies were only found in some cases. The most common presenting symptom of microtia is hearing loss. Its degree and type differ according to the severity of the disease and frequencies affected. In total, 88.5% (23 ears) have conductive hearing loss and 11.5% (three ears) have mixed hearing loss. Karyotyping was performed for 10 cases; nine cases were normal, whereas one case was abnormal (47XY, +21) (Down’s syndrome), which represents 5% of all cases studied. FISH was performed for four cases of Treacher Collins syndrome using a probe for chromosome 5 with gene map locus 5q31q33, but no deletion was found in the chromosome 5 Treacher Collins–Franceschetti 1 (TCOF1) gene. Genetic predisposition for both autosomal dominant and autosomal recessive inheritance seems to be a strong determinant factor in the etiology of microtia than the environmental one. As for Treacher Collins, which is the most frequently clinically diagnosed syndrome in the current study, the FISH study showed that the 5q31-q33 locus may not carry the causative mutation as no single case was positive for this locus. Hearing impairment, of the conductive type, is the most frequent symptom that leads parents to seek medical advice and genetic counseling.

Treacher Collins syndrome - a report of two cases with review of literature

Background: Treacher Collins syndrome is congenital disorder characterized by developmental anomalies of the maxillofacial region. The zygomatic complex and mandible are usually involved. Case Presentation: We are hereby reporting the clinical and radiological features of two cases of Treacher Collins syndrome occurring in different age groups. The extraoral and intraoral features of this syndrome are described in detail. Conclusion: Multiple major reconstructive surgical procedures in severe form of TCS shown only marginal improvement. Therefore future research should be directed towards preventive aspects and early prenatal detection of this condition.

PO-0915 Therapeutic Options For Conductive Hearing Loss In Children With Cleft Palate

Background and aim Cleft lip and palate is a common congenital malformation correlated with otological disorders like Eustachian tube dysfunction, otitis media with effusion and conductive hearing loss correlated with speech disorders. Methods In our study we evaluate the therapeutic options for the conductive hearing loss in these children, such as: middle ear ventilation tube insertion, hearing aids and adenoidectomy. We conducted a retrospective chart review on 19 patients who underwent last follow-up during 2013, aged between 1 and 16, affected by cleft palate. We identified 3 cases of Treacher-Collins syndrome, 2 cases of CHARGE syndrome, 2 case sof Pierre Robin, 1 case of Goldhenar and 1 case of Di George syndrome. In 9 cases the cleft palate was isolated. In 14 cases we conducted phoniatric and logopaedic evaluations and 10 of these showed a speech disorder. Results We found a conductive hearing loss in 12 of the 19 children.2 of these patients used hearing aids with an improvementof speech performance; 1 patient underwent adenoidectomy for the appearance of sleep apnea but he modified his quality of voice with hypernasality and nasal emission after surgery; finally 9 children had spontaneous resolution of otitis media with effusion. Conclusions In conclusion we found that the more effective way to resolve the problem of conductive hearing loss and the resulting speech disorder is to use the hearing aids until the resolution of the hearing loss, which normally occurs around 7 years old.

English

PURPOSE: To present a case of Treacher Collins syndrome. METHODS: A 7 days-old girl child with eye and facial disfiguration since birth was examined and managed conservatively. RESULTS: The presenting symptom of the patient was eye and facial disfiguration .she had sunken appearance of the face, with abnormally wide fish like mouth (macrostomia), depressed nasal bridge, parrot beak nose, malar hypoplasia with an anti mongoloid slant with associated micrognathia, glossoptosis, and high arched palate with cleft palate. On ocular examination, there was notching of lower eyelid, downward slanting eyes, complete absence of lower eyelid lashes. The patient was managed conservatively with nutritional support through nasogastric tube feeding, parenteral antibiotics and eye drops. During discharge, necessary counseling was done with an advice to have a regular follow up for further treatment of hearing loss and reconstructive surgery of facial anomalies. CONCLUSION: We are reporting this case of Treacher Collins syndrome baby, with no family history,

Airway management in a case of Treacher Collins Syndrome-A case report

Treacher Collins Syndrome, also known as mandibulofacial dysostosis is a rare autosomal dominant disorder characterized by craniofacial abnormalities and dysmorphic facies. The estimated incidence varies about 1 in 40,000 to 1 in 70,000 live births. It is associated with difficult mask ventilation and intubation because of facial abnormalities. Hence, recognition of this syndrome is of prime importance for us as anaesthesiologists to prevent potential airway problems under anaesthesia. Here, we report a case of Treacher Collins Syndrome posted for pseudopterygium excision, who was successfully managed with general anaesthesia.

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome

ObjectiveTo analyze the clinical features, hearing rehabilitation and family related gene mutations in the Chinese cases of Treacher Collins syndrome (TCS). The purpose of this study is to emphasize the genetic research result correlating with the clinical assessment of TCS in Chinese families. MethodsSix patients with tentative diagnosis and family members of two patients were analyzed in this study. The analysis included medical histories, clinical analysis, hearing tests and genetic tests. The TCOF1, POLR1C and POLR1D genes were sequenced to identify the pathogenic mutation responsible for the development of TCS. ResultsThe two TCS cases exhibited high phenotypic variability. One novel heterozygous mutation (c.4420 C>T) in the TCOF1 gene was identified. The mutations were found in the TCS patients but not in any of their unaffected family members or the 200 unrelated control subjects. ConclusionsA novel TCOF1 c.4420 C>T mutation can be a cause of TCS in Chinese. We think that genetic studies to assess patients with mandibulofacial dysostosis may assist in making TCS diagnosis and providing consultant for their families.

English

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized primarily by abnormalities in the development of the head and face. We report a case of 5 year old boy who presented with complaint of hearing impairment and malformed pinna and later diagnosed as case of treacher Collins syndrome.

Two extraordinarily severe cases of Treacher Collins syndrome

Here, we report two extraordinarily severe cases of Teacher Collins syndrome. Initially, amniotic bands and plical fold disruption were considered, but downslanting eyes made us consider severe Treacher Collins syndrome. A TCOF1 mutation in exon 24 was identified in Patient 1 (c.4355_4356ins14, resulting in p.1456Thrfs*18). Patient 2, who expired on day 4, is so similar to Patient 1 that severe Treacher Collins syndrome may be inferred in this instance. Neither the TCOF1 mutation nor the well-known variability in the expression in affected families with Treacher Collins syndrome (∼40% of reported cases) can explain the severity of these cases; otherwise, we would be aware of such cases within families from time to time. We are unaware of any recent sporadic cases (∼60% of reported cases) exactly like ours either with a single exception in the case reported by Writzl et al. [2008] with a TCOF1 mutation. The case described by Otto in 1841 is spectacular. We propose several hypotheses to be considered in explaining this developmental amplification, including some promoter effect on the gene, some position effect on the gene, a polymorphism elsewhere in the gene, a point mutation elsewhere in the gene, a polymorphism in another gene, or a point mutation in another gene, such as POLR1C (which maps to 6p21.1) or POLR1D (which maps to13q12.2). We also review the etiology and pathogenesis of Treacher Collins syndrome, and discuss several other severe cases from the past.

OP05.09: Prenatal diagnosis of middle ear hypoplasia in 2 cases of Treacher Collins syndrome and OAV spectrum using magnetic resonance imaging

OP05.09: Prenatal diagnosis of middle ear hypoplasia in 2 cases of Treacher Collins syndrome and OAV spectrum using magnetic resonance imaging

Successful intubation using a simple fiberoptic assisted laryngoscope for Treacher Collins syndrome

A fiberoptic-assisted laryngoscope (FLS) (Acoma Medical Industry Co. Ltd., Tokyo, Japan) is a modified Macintosh laryngoscope with a tubular holder into which a fiberoptic bronchoscope can be inserted. We present three cases of Treacher Collins syndrome whose tracheas were successfully intubated with the aid of the FLS. These cases suggest that the FLS may be a useful alternative in the case of difficult pediatric intubation.

Treacher-Collins Syndrome and Associated Abnormalities

Treacher-Collins syndrome or mandibulofacial dysostosis is an autosomal dominant disorder of craniofacial development. In this familial syndrome there is an arrest in the development of the facial bones, manifested by a depression of the malar bones, an antimonogoloid slant of the palpebral fissures, mandibular hypoplasia with retrognathia, coloboma of the lower eyelids and deformities of the ear structures derived from the branchial arches. Frequently, there is external auditory canal atresia and deformity of the pinnae. Other uncommon anomalies include congenital heart defects and cryptorchidism. This study describes a rare case of Treacher-Collins syndrome associated with congenital cardiopathy and megacolon, with a review of the literature.

Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

Three-dimensional spiral CT of craniofacial malformations in children.

To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent work-station. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and "Lego effect" related to abrupt change of cranial vault border were encountered and are discussed. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment.