Treacher Collins Syndrome: A Rare and Special Case Report of a 9-Year-Old Boy from Saudi Arabia

Treacher Collins syndrome (TCS) is characterized by downslanting palpebral fissures on both sides, malar hypoplasia, micrognathia, and external ear abnormalities. Hypoplasia of the zygomatic bones and jaw may make it difficult to eat and breathe. TCS, also known as Franceschetti syndrome or mandibulofacial dysostosis, is an autosomal dominant craniofacial condition with a wide range of symptoms. Edward Treacher Collins (1862?1932), an English ophthalmologist, first defined the syndrome’s fundamental characteristics in 1900. This syndrome is approximately affecting 1 in 50,000 live births with equal gender affection. In Saudi Arabia, it follows a similar pattern of prevalence. Antimongoloid slanting palpebral fissures, colobomas of the lower eyelid, hypoplasia of the zygoma and mandible, auditory microtia, conductive hearing loss, obstructive sleep apnea, and a range of orofacial abnormalities are the most prevalent clinical symptoms of TCS. In this case report, the author describes a deep-rooted analysis of the clinical features of TCS in a 9-year-old boy as well as his follow-up case. The study was conducted for a period of 9 years from birth to 9 year-old age, which makes this case report as a special rare 9-year follow-up case report from Saudi Arabia.

Descripción clínica y hallazgos polisomnográficos en tres pacientes con Síndrome de Treacher Collins / Clinical description and polysomnographic findings in three patients with Treacher Collins

El Síndrome de Treacher Collins (STC) es una enfermedad congénita del desarrollo craneofacial, siendo una complicación frecuente la obstrucción de la vía aérea. Objetivo: Describir clínicamente tres casos de STC y sus hallazgos polisomnográficos. Diseño: Estudio observacional, descriptivo y retrospectivo. Revisión de fichas clínicas y polisomnografías (PSG). Resultados: Se incluyeron tres pacientes con STC, de 1, 17 y 20 años, dos hombres. Todos presentaron malformaciones faciales compatibles con el STC. El paciente menor tuvo apneas desde el nacimiento. En las PSG, todos presentaron eficiencia del sueño disminuida e índice de microdespertares aumentado. Solo un paciente tuvo diagnóstico de Síndrome de Apnea/Hipoapnea Obstructiva del Sueño (SAHOS) severo. Conclusiones: Aún cuando las anomalías craneofaciales no difirieron entre los pacientes, hubo sólo un caso de SAHOS severo. Las otras alteraciones descritas en la PSG afectan la calidad de vida, siendo relevante la búsqueda activa de trastornos respiratorios del sueño en estos pacientes.

Treacher Collins Syndrome (STC) is a congenital craniofacial disorder, being the airway obstruction a frequent complication. Objective: To describe clinical and polysomnographic findings of three cases with STC. Methods: An observational, descriptive and retrospective study. Review of clinical records and nocturnal polysomnography was carried out. Results: Three patients with STC were included of 1, 17 and 20 years old, two were males. All of them with facial malformations compatible with STC. Only the youngest presented apneas since birth. All patients had decreased sleep efficiency and increased arousal index. Only one patient presented with severe Obstructive Sleep Apnea Syndrome (OSAS). Conclusions: Despite the fact that all the patients had similar craniofacial anomalies, only one presented with severe OSAS. The other abnormalities described in the polysomnography affect the quality of life, being relevant performing an active screening of breathing-related sleep disorders in these patients.

Caso clínico: aproximación a la vía aérea difícil en neonatología. Síndrome de Treacher-Collins / Clinical case: approach to the difficult airway in neonatology. Treacher-Collins syndrome

Cuando los recién nacidos presentan obstrucción de la vía aérea, requieren un manejo urgente y experto para evitar la mortalidad y la morbilidad. La definición de vía aérea difícil se relaciona con problemas en la intubación endotraqueal o en la ventilación a presión positiva con bolsa y máscara o reanimador de pieza en T. El manejo debe basarse en la comprensión del mecanismo fisiopatológico responsable de la vía aérea difícil. Las causas en el recién nacido pueden ser congénitas y/o adquiridas.Se presenta el caso de una recién nacida con síndrome de Treacher-Collins tipo 1 [OMIM #154500] con una disostosis mandibulofacial, micrognatia, hipoplasia malar, paladar hendido, sin cardiopatía congénita, asociado con intubación extremadamente difícil

f newborns have an airway obstruction, they require urgent and expert management to avoid mortality and morbidity. The definition of difficult airway includes problems in endotracheal intubation or positive pressure ventilation with bag and mask or T-piece resuscitator. Management should be based on an understanding of the pathophysiological mechanism responsible for difficult airway. The causes of difficult airway in the newborn can be congenital or acquired.We present the case of a newborn with Treacher-Collins syndrome Type 1 [OMIM # 154500] with a mandibulofacial dysostosis, micrognathia, malar hypoplasia, cleft palate, without congenital heart disease, associated with extremely difficult intubation

Narrativas sobre a vida e o início do tratamento de uma paciente com Síndrome de Treacher Collins: um estudo de caso / Stories about life and treatment onset of a patient with Treacher Collins syndrome: case study

Síndrome de Treacher Collins (STC) é uma anomalia do desenvolvimento craniofacial rara de manifestação clínica variável. Este estudo teve por objetivo principal analisar a experiência de uma mulher de 26 anos com STC que iniciou a reabilitação na idade adulta, buscando aprofundar possíveis impactos para o seu desenvolvimento. Com aprovação do Comitê de Ética em Pesquisa (CAAE 00981418.3.0000.5441), realizou-se um estudo de caso clínico por meio da análise documental do prontuário multiprofissional e uma entrevista semiestruturada gravada em áudio, transcrita integralmente e analisada qualitativamente pela técnica de Análise de Conteúdo de Bardin. Evidenciaram-se duas categorias temáticas que sinalizam a experiência de vida da participante dividida em dois momentos: (1)"Desenvolvimento até a fase adulta" que abarcou as subcategorias: "O que eu tenho?"; "Relacionamento com a mãe"; "Eu sofri bullying: desafio da escolarização" (2) "Ser alguém com Síndrome de Treacher Collins", e subcategorias: "Existem outros como eu: conhecendo o diagnóstico"; "Início do tratamento: desafios e expectativas"; "A psicologia e a equipe interdisciplinar"; "Mas hoje eu sou feliz: planos para o futuro". STC, sendo uma malformação facial, pode implicar em conviver com o estigma de não apresentar o rosto dentro dos padrões sociais impostos. No caso analisado, apontou-se sofrimento emocional, sendo este intensificado pelo não pedido de ajuda. Por outro lado, o diagnóstico da síndrome possibilitou o processo de identificação com outros sujeitos acometidos, o início da reabilitação e a vivência de impactos positivos em sua qualidade de vida. A psicologia figurou como espaço de escuta e possibilidade de reflexão sobre o processo de reabilitação.

The Treacher Collins syndrome (TCS) is a rare anomaly of craniofacial development with variable clinical manifestation. The main goal of this study was to analyze the experience of a 26-year-old woman with TCS who initiated her rehabilitation in adulthood, aiming to deepen the possible impacts on her development. After approval by the Institutional Ethics Review Board (CAAE 00981418.3.0000.5441), the case study was conducted by documental analysis of the multiprofessional patient records and a semi-structured interview recorded in audio, transcribed in full and qualitatively analyzed by the Content Analysis technique of Bardin. Two theme categories were evidenced that indicated the life experience of the participant divided in two periods: (1) "Development up to adulthood", which included the subcategories: "What's wrong with me?"; "Relationship with the mother"; "I suffered bullying: challenge of school education" (2) "Being someone with Treacher Collins syndrome", and subcategories: "There are others like me: knowing the diagnosis"; "Treatment onset: challenges and expectations"; "Psychology and the interdisciplinary team"; "But I am happy today: plans for the future". Since TCS is a facial malformation, it may involve living with the stigma of not presenting a face within the imposed social standards. The present case presented emotional suffering, worsened because she did not ask for help. Conversely, the diagnosis of the syndrome allowed the process of identification with other affected individuals, the onset of rehabilitation and experience of positive impacts on her quality of life. Psychology participated as a space for hearing and possibility of reflecting about the rehabilitation process.

Pathogenic genes and clinical therapeutic strategies for Treacher Collins syndrome / 华西口腔医学杂志

Treacher Collins syndrome is a congenital craniofacial malformation with autosomal dominant inheritance as the main genetic pattern. In this condition, the biosynthesis of ribosomes in neural crest cells and neuroepithelial cells is blocked and the number of neural crest cells that migrate to the craniofacial region decreases, causing first and second branchial arch dysplasia. Definite causative genes include treacle ribosome biogenesis factor 1 (tcof1), RNA polymerase Ⅰ and Ⅲ subunit C (polr1c), and RNA polymerase Ⅰ and Ⅲ subunit D (polr1d). This paper provides a review of research of three major patho-genic genes, pathogenesis, phenotypic research, prevention, and treatment of the syndrome.

Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome / 中国修复重建外科杂志

Objective: To summarize the progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome (TCS). Methods: The domestic and abroad literature about the diagnosis and treatment of upper respiratory obstruction in patients with TCS was extensively reviewed and analyzed. Results: TCS is an autosomal-dominant craniofacial developmental syndrome. It is often accompanied by midface and/or mandibular hypoplasia, soft tissue hypertrophy, and other respiratory tissue developmental abnormalities, which can lead to different degrees of upper respiratory obstruction symptoms. Respiratory obstruction in patients with TCS is affected by many factors, and the obstructive degree are different. Early detection of the causes and obstructive sites and adopted targeted treatments can relieve the symptoms of respiratory obstruction and avoid severe complications. Conclusion: Due to the low incidence of TCS, there is still a lack of high-quality research evidence to guide clinical treatment. Large-scale and prospective clinical studies are needed to provide new ideas for the treatment and prevention of upper respiratory obstruction.

Traz a deformidade de orelha impacto negativo na qualidadede vida em indivíduos com síndrome de Treacher Collins? / Does an ear deformity bring an adverse impact on quality of life of Treacher Collins syndrome individuals?

Resumo A Síndrome de Treacher Collins (STC) é uma síndrome craniofacial de padrão autossômico dominante e expressão clínica variada, em que a orelha pode ou não estar ausente ou malformada. Indivíduos com STC sofrem estigmas podendo repercutir na interação com pares. Instrumentos de qualidade de vida obtidos por meio de questionários de autopercepção são ferramentas de identificação de estigmas e podem permitir o ajuste social desses indivíduos. Objetiva-se avaliar e mensurar a qualidade de vida em indivíduos com STC, aferindo os impactos da deformidade de orelhas na qualidade de vida. Doze voluntários com diagnóstico clínico e genético de STC responderam ao questionário de qualidade de vida da OMS, divididos em grupos com orelhas normais (n = 6) versus orelhas afetadas (n = 6) e seus resultados foram comparados. A escala de Siviero foi usada para estratificar a qualidade de vida em satisfatória, intermediária e insatisfatória. A pontuação geral do grupo com orelhas normais foi de 73,13; a do grupo com orelhas afetadas de 71,81, ambos classificados como níveis intermediários de qualidade de vida e sem diferença significativa entre si. A deformidade de orelha não representa um ônus na qualidade de vida dos indivíduos que já se apresentam com outras deformidades e com escores de qualidade de vida intermediários.

Abstract 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.

Difficult fiberoptic tracheal intubation in 1 month-old infant with Treacher Collins Syndrome / Intubação traqueal difícil com fibra óptica em bebê de um mês de idade com síndrome de Treacher Collins

Abstract Neonates and small infants with craniofacial malformation may be very difficult or impossible to mask ventilate or intubate. We would like to report the fiberoptic intubation of a small infant with Treacher Collins Syndrome using the technique described by Ellis et al. Case report: An one month-old infant with Treacher Collins Syndrome was scheduled for mandibular surgery under general endotracheal anesthesia. Direct laryngoscopy for oral intubation failed to reveal the glottis. Fiberoptic intubation using nasal approach and using oral approach through a 1.5 size laryngeal mask airway were performed; however, both approach failed because the fiberscope loaded with a one 3.5 mm ID uncuffed tube was stuck inside the nasal cavity or inside the laryngeal mask airway respectively. Therefore, the laryngeal mask airway was keep in place and the fiberoptic intubation technique described by Ellis et al. was planned: the tracheal tube with the 15 mm adapter removed was loaded proximally over the fiberscope; the fiberscope was advanced under video-screen visualization into the trachea; the laryngeal mask airway was removed, leaving the fiberscope in place; the tracheal tube was passed completely through the laryngeal mask airway and advanced down over the fiberscope into the trachea; the fiberscope was removed and the 15 mm adapter was reattached to the tracheal tube. Conclusion: The fiberoptic intubation method through a laryngeal mask airway described by Ellis et al. can be successfully used in small infants with Treacher Collins Syndrome.

Resumo Os recém-nascidos e crianças pequenas com malformação craniofacial podem ser muito difíceis ou impossíveis de ventilar por máscara ou de intubar. Gostaríamos de relatar a intubação com fibra óptica de um bebê com síndrome de Treacher Collins usando a técnica descrita por Ellis et al. Relato de caso: Uma criança de um mês de idade com síndrome de Treacher Collins foi programada para cirurgia mandibular sob anestesia geral endotraqueal. A laringoscopia direta para intubação oral não revelou a glote. A intubação com fibra óptica usando as abordagens nasal e oral por meio de máscara laríngea de tamanho 1,5 foi tentada, mas ambas as abordagens falharam porque o fibroscópio portando um tubo sem balonete de 3,5 mm ficou preso no interior da cavidade nasal ou dentro da máscara laríngea, respectivamente. Portanto, a máscara laríngea foi mantida no lugar e a técnica de intubação com fibra óptica descrito por Ellis et al. foi planejada: o tubo traqueal com o adaptador de 15 mm removido foi colocado proximalmente sobre o fibroscópio; o fibroscópio foi avançado na traquéia sob visualização em tela devídeo; a máscara laríngea foi removida, deixando o fibroscópio no lugar; o tubo traqueal foi passado completamente através da máscara laríngea e avançado para baixo sobre o fibroscópiona traquéia; o fibroscópio foi removido e o adaptador de 15 mm foi recolocado no tubo traqueal. Conclusão: O método de intubação com fibra óptica através de uma máscara laríngea descrito por Ellis et al. pode ser usado com sucesso em bebês com síndrome de Treacher Collins.

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.

Management of obstructive sleep apnea in a Treacher Collins syndrome patient using distraction osteogenesis of the mandible

In this study, we present the surgical treatment of obstructive sleep apnea in a child with Treacher Collins syndrome. A 10-year-old girl with a past history of Treacher Collins syndrome presented to our clinic with her parents for respiratory distress and insomnia. The patient was referred to a sleep laboratory where she was diagnosed with obstructive sleep apnea, which was a consequence of her Treacher Collins syndrome. The patient underwent mandibular distraction osteogenesis under general anesthesia. The mandible was expanded by 15 mm using internal bilateral distractors. After distraction osteogenesis, the patient’s respiratory problems resolved, and she was able to sleep comfortably. Distraction osteogenesis was an effective method of advancing the mandible, increasing the upper airway space and ultimately preventing obstructive sleep apnea syndrome in patients with Treacher Collins syndrome.

Síndrome de Treacher-Collins. Presentación de un caso / Treacher-Collin syndrome. Presentation of a case

El síndrome de Treacher Collins es también conocido como síndrome de Berry-Franceschetti-Klein o Franceschetti-Zwahlen-Klein. Disostosis mandibulofacial o síndrome del primer arco, se corresponde con un desorden autosómico dominante del desarrollo craneofacial, y puede mostrar innumerables manifestaciones clínicas. En el caso presentado se pudieron observar múltiples malformaciones craneofaciales así como una severa escoliosis, atresia del conducto auditivo externo, papilomas preauriculares bilaterales y polidactilia preaxial en la mano derecha.

Treacher-Collin syndrome, also known as Berry-Franceschetti-Klein or Franceschetti-Zwahlen-Klein, mandibulo-facial dysostosis or first arc syndrome, is a dominant autosomic disorder of the craniofacial development and may have innumerous clinical manifestations. In the case we present with this syndrome, we observed multiple craniofacial malformations, and also a severe scoliosis, external auditive duct atresia, bilateral preauricular papilomas and right hand pre axial polydactilia.

A Novel Insertion in Exon 23 of the TCOF1 Gene in a Newborn Infant with Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is the most common and well known mandibulofacial dysostosis with characteristic clinical features including downward slanting of palpebral fissures, coloboma of the lower eyelid, hypoplastic zygomatic arches, micrognathia, macrostomia, microtia, and other deformities of the ears. TCS is caused by mutations in at least 3 genes involved in pre-rRNA transcription: TCOF1, POLR1D and POLR1C. We experienced a 1-day-old female infant with characteristic clinical features of TCS. A novel, heterozygotic mutation within the TCOF1 gene (c.3874_3875insG, p.Ala1292Glyfs*30) was identified to cause a premature stop codon.

Airway management in a patient with Treacher Collins syndrome: A case report / 대한마취과학회지

Treacher Collins Syndrome (TCS) is an autosomal dominant genetic disorder which is resulted from the mutation that affect the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene on chromosome 5. The features of patients affected by this syndrome are characterized by depression of the malar bones, an antimongoloid slant of the palpebral fissures, coloboma of the lower lids, mandibular hypoplasia with retrognathia and deformities of the ear structures. The airway obstruction is frequently caused by mandibular hypoplasia. This may necessitate the placement of a tracheostomy for airway patency after the birth. We experienced a tracheostomy for an infant with respiratory difficulty associated airway obstruction.

Acute airway obstruction in an infant with treacher collins syndrome: Report of a case

Treacher Collins syndrome is inherited as an autosomal dominant trait with variable penetrance. It shows a marked variability even in the same family. This syndrome is developmental defect affecting the branchial arches. It is not usually associated with acute respiratory distress, but has symptoms of microtia, hypoplastic zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma. It usually requires an emergency operation immediately after the birth. We experienced an infant with Treacher Collins syndrome who showed retrognathia, glossoptosis, microtia, and cleft palate. Intermittent cyanosis, depression of the chest, respiratory difficulty associated with airway obstruction, and swallowing difficulty were also observed. To relieve severe upper airway obstruction caused by retrognathia and glossoptosis, we simultaneously performed tongue-lip adhesion and subperiosteal release of the floor of the mouth. The respiratory and swallowing difficulties were relieved and the tongue repositioned anteriorly. We report the present case with a review of the literature.

Fiberoptic Bronchoscopic Intubation in a Patient with Treacher-Collins Syndrome / 대한마취과학회지

The Treacher-Collins syndrome is a rare congenital anomaly characterized by mandibular, maxillary, and malar bone hypoplasia, bilateral deformities of auricles, lower lid defects, and antimongoloid slant of the palpebral fissures. The syndrome is associated with considerable difficulty in airway management during anesthesia; difficult, often impossible, endotracheal intubation and face mask ventilation. We report case of Treacher-Collins syndrome in 13-year-old girl who was intubated with fiberoptic bronchoscope and discuss anesthetic consideration.