Severity of Mandibular Dysmorphology in Treacher Collins Syndrome for Stratification of Perioperative Airway Risk.

BACKGROUND: Patients with Treacher Collins syndrome (TCS) and attendant airway dysmorphology may be predisposed to airway complications in the perioperative period. However, limited data correlates severity of mandibular hypoplasia and airway status. This study aims to improve risk stratification for perioperative airway insufficiency in TCS by using a previously proposed mandibular severity index. METHODS: Patient demographics, perioperative airway status, difficulty of intubation, and Cormack Lehane grade were collected and compared using a TCS mandibular hypoplasia severity grading scale in patients with TCS treated between 2000 and 2022. RESULTS: Twenty-six patients underwent 222 procedures with institutional mandibular severity gradings as follows: 23% Grade I, 31% Grade II, 39% Grade III, 8% Grade IV. Our severity index was associated with intubation difficulty ( P <0.001) and difficult airway status ( P <0.001), with 72% of difficult airways found in grade III and grade IV patients. Mandibular retrusion and ramal hypoplasia subscores were positively correlated with measures of airway severity ( P <0.001), whereas the gonial angle was negatively correlated ( P <0.001). Age was negatively correlated with difficult visualization for endotracheal intubation ( P =0.02) but had no association with difficult airway status ( P =0.2). CONCLUSIONS: This study found a positive correlation between severity of maxillomandibular dysmorphology and perioperative airway difficulty in TCS patients. Our findings suggest that severely affected patients require heightened vigilance throughout life, as difficult airways may not completely resolve with aging. Given the risk of morbidity and mortality associated with airway complications, proper identification and preparation for challenging airways is critical for TCS patients.

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.

Revisión bibliográfica sobre síndrome de Treacher Collins / Treacher Collins síndrome: A review

INTRODUCTION: Treacher Collins syndrome is a rare disorder of the craniofacial development that constitutes a challenge for anesthesiologists, since it represents a difficult airway in the majority of cases. The main objective of this article is to provide a bibliographic review about how the airway management of patients with Treacher Collins syndrome has been managed. MATERIALS AND METHODS: A literature review was carried out in the following databases: PubMed, EMBASE and ScienceDirect. DISCUSSION: The factors that increase the risk of difficult airway in these patients are presented as well as the strategies to handle it. CONCLUSION: The Treacher Collins syndrome presents a high risk of difficult airway, therefore careful planning of airway management is mandatory and there are different strategies to handle it.

INTRODUCCIÓN: El síndrome de Treacher Collins (STC) es un trastorno inusual del desarrollo craneofacial que constituye un reto para el anestesiólogo, ya que éste condiciona la condición de vía aérea difícil en la mayoría de los casos. El objetivo principal de este artículo es realizar una revisión bibliográfica de cómo se han manejado casos de vía aérea difícil ligados al síndrome de Treacher Collins. MATERIALES Y MÉTODOS: Se realizó una revisión de la literatura disponible en las siguientes bases de datos: PubMed, EMBASE y ScienceDirect. DISCUSIÓN: Se presentan los factores que aumentan el riesgo de vía aérea difícil en estos pacientes, así como las estrategias para manejarla. CONCLUSIÓN: El síndrome de Treacher Collins presenta un alto riesgo de vía aérea difícil, por lo tanto, es obligatoria la planificación cuidadosa de la misma, contando con diferentes estrategias para manejarla.

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

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.

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.

Intubação de via aérea difícil em paciente com síndrome de Treacher Collins / Difficult airway intubation in a patient with Treacher Collins syndrome - case report

A síndrome de Treacher Collins é uma patologia rara, com gene causador mapeado no braço longo do cromossomo cinco (5q31. 3-q33.3). Conhecida como disostose craniofacial, apresenta-se com hipoplasia malar, hipoplasia mandibular e malformações do pavilhão auricular. Tal condição representa previsão de dificuldade para o ato anestésico de intubação, necessitando de avaliação pré-operatória minuciosa e cuidado intensivo no perioperatório. A anestesia geral costuma ser realizada por indução de anestésicos inalatórios, uma vez que crianças submetidas a procedimentos cirúrgicos são não cooperativas, além de haver dificuldade de se obter acesso venoso. Assim, objetiva-se relatar caso de via aérea de intubação difícil em paciente com síndrome de Treacher Collins, correlacionando às manifestações clínicas, ao diagnóstico e ao tratamento cirúrgico, e revisando a literatura sobre o tema. Relatamos um caso cuja singularidade reside no manejo anestésico diferente dos executados em outros centros médicos, ao abordar pacientes com previsão de via aérea difícil. Ao invés de se utilizar máscara laríngea ou intubação com laringoscópio óptico, procedeu-se a: indução inalatória, sedação sem abolir respiração espontânea, visualização das estruturas para introdução do tubo endotraqueal (Cormack 3), acesso venoso, intubação orotraqueal e, posteriormente, indução anestésica e bloqueio neuromuscular. Julgamos importante divulgar tal relato para expor alternativas na indisponibilidade de certos dispositivos, como o fibroscópio. A técnica de intubação sem máscara laríngea ou fibroscópio em pacientes com síndrome craniofacial pode ocorrer sem intercorrências com a estratégia de não abolir a respiração do paciente, porém com leve sedação, devido à não cooperação e à dificuldade de se obter acesso venoso em crianças. (AU)

Treacher Collins syndrome is a rare disease with the culprit gene mapped on the distal long arm of chromosome five (5q31. 3-q33.3). It is known as craniofacial dysostosis, and presents with malar hypoplasia, mandibular hypoplasia, and pinnae malformations. Such condition represents expected difficult airway intubation during anesthesia, requiring detailed preoperative evaluation, and intensive perioperative care. General anesthesia is usually performed through inhaling anesthetics because children undergoing surgical procedures are not cooperative, and their venous access is difficult. Thus, the aim of the study is to report a case of difficult airway intubation in a patient diagnosed with Treacher Collins syndrome, correlating clinical manifestations, diagnosis e surgical treatment, and reviewing the literature on the subject. We report a case that is unique because the anesthetic management is different from what has been done in other medical centers, since it manages patients with expected difficult airway. Instead of using a laryngeal mask airway (LMA) device or a flexible optical intubation (FOI), an inhaling induction was performed, with preserved spontaneous breathing sedation, and visualization of the structures to receive the endotracheal tube (Cormarck 3), venous access, orotracheal intubation and then, anesthetic induction and neuromuscular block. We consider it important to share this report to give alternatives when some devices, such as the fiberscope, are not available. The intubation technique without laryngeal mask airway device or fiberscope in patients with craniofacial syndrome may take place with no complications, when the patient's spontaneous breathing is not aborted, but with light sedation, because of children's noncooperation, and difficulty venous access. (AU)

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.

Speech language pathology findings in a Treacher Collins syndrome patient.

BACKGROUND: Treacher Collins syndrome (TCS) is a rare disorder with different levels of severity due to congenital head and face abnormalities which affect language, orofacial musculature, voice and breadth, suction, chewing and swallowing functions. AIMS: This paper objectifies to report a Treacher Collins syndrome patient, describing phonoaudiological changes that can be found in individuals suffering from this syndrome. METHODS & PROCEDURES: The study was carried out with a male child at a teaching Speech Language Pathology clinic in Southern Brazil. The patient underwent audiological assessment, as well as orofacial motricity, swallowing, voice and speech assessments. OUTCOMES & RESULTS: By means of the assessments, it was possible to perceive that the patient presents moderate hearing loss, inadequacy of phonoarticulatory organs, base of the tongue going backwards and epiglottis collapse over the larynx. In spite of evidencing significant difficulty in producing speech sounds, due to musculoskeletal changes, he effectively interacts in communicative situations, besides understanding sentences and narrated stories. CONCLUSIONS & IMPLICATIONS: The screened case report evidences that an interdisciplinary follow-up is indispensable for this patient suffering from Treacher Collins syndrome, which implies not only speech language therapeutic follow-up, but also in ear, nose and throat and orthodontics areas.

[Hearing rehabilitation in Treacher Collins Syndrome with bone anchored hearing aid]. / Reabilitação auditiva na Síndrome de Treacher Collins por meio de prótese auditiva ancorada no osso.

OBJECTIVE: To describe a case of hearing rehabilitation with bone anchored hearing aid in a patient with Treacher Collins syndrome. CASE DESCRIPTION: 3 years old patient, male, with Treacher Collins syndrome and severe complications due to the syndrome, mostly related to the upper airway and hearing. He had bilateral atresia of external auditory canals, and malformation of the pinna. The initial hearing rehabilitation was with bone vibration arch, but there was poor acceptance due the discomfort caused by skull compression. It was prescribed a model of bone-anchored hearing aid, in soft band format. The results were evaluated through behavioral hearing tests and questionnaires Meaningful Use of Speech Scale (Muss) and Infant-Toddler Meaningful Auditory Integration Scale (IT-Mais). COMMENTS: The patient had a higher acceptance of the bone-anchored hearing aid compared to the traditional bone vibration arch. Audiological tests and the speech and auditory skills assessments also showed better communication and hearing outcomes. The bone-anchored hearing aid is a good option in hearing rehabilitation in this syndrome.

Nager syndrome and Pierre Robin sequence.

Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.

Coocorrência de síndrome de Treacher-Collins e de síndrome de Down: relato de caso e conduta / Co-occurrence of Treacher-Collins syndrome and Down syndrome: case report and conduct

A síndrome de Treacher-Collins é uma malformação hereditária rara do primeiro e segundo arcos branquiais, enquanto a síndrome de Down ou trissomia do cromossomo 21 é a mais frequente alteração cromossômica humana. Este estudo descreve a coocorrência dessas síndromes, constituindo-se no segundo relato até agora descrito na literatura. Evidencia também que o seu diagnóstico precoce e o tratamento adequadodas malformações craniofaciais são fundamentais para prevenir a ambliopia e melhorar a qualidade de vida.

Treacher-Collins syndrome is a rare, inherited malformation of the first and second brancheal arches and Down syndrome or trisomy 21 is the most common human chromosomal alteration. This study describes the co-occurrence of these two syndromes, and is the second report so far ever to do so in the literature. It also shows that early diagnosis and proper treatment of craniofacial malformations are essential to prevent amblyopia and to improve quality of life.

Mandibulofacial dysostosis, severe lower eyelid coloboma, cleft palate, and alopecia: A new distinct form of mandibulofacial dysostosis or a severe form of Johnson-McMillin syndrome?

We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption and crowded teeth, and sensorioneural hearing loss. The karyotype and the screening for mutations in the coding region of TCOF1 gene were normal. The clinical signs of our case overlap the new mandibulofacial dysostosis described by Stevenson et al. [2007] and the case with Johnson-McMillin syndrome described by Cushman et al. [2005]. The similar clinical signs, mainly, the severe facial involvement observed in these cases suggest that they can represent a new distinct form of mandibulofacial dysostosis or the end of the spectrum of Johnson-McMillin syndrome.

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and mental retardation, microcephaly, first branchial arch anomalies, and cleft palate. To date only three males and one female, all sporadic cases, with a similar condition have been reported. This article describes the first familial case with this rare condition indicating autosomal dominant or X-linked inheritance.

Radiological findings and dynamic aspects of stomatognathic structures in Treacher Collins syndrome: clinical case report.

Treacher Collins syndrome usually affects bilateral and symmetric structures that include the orbits, mandible, and ears. The purpose of this report is to describe a clinical case of the syndrome, focusing on the anatomy of the temporomandibular joint, which was assessed using the computed tomography method. Clinical examination included evaluation of mandibular dynamics, investigation of temporomandibular dysfunction, and measurement of bite force. Significant morphological and functional alterations were observed but without significant documented clinical consequences.

Oral health status of children with treacher Collins syndrome.

There is a lack of data on the oral health status of individuals with craniofacial syndromes. A group of 15 children with Treacher Collins syndrome, aged 5 to 15 years old, was examined and evaluated for plaque, caries and gingival problems. The ability of the patients to clean their teeth was also investigated. A high plaque index and poor efficacy of tooth-brushing was recorded. The caries and gingival indexes were not proportionally as high as the plaque accumulation. There was no association between the gingival index and presence of mouth breathing. There was predominance of the D component in both the dmft and DMFT indexes; this was associated with a need for restorative dental treatment in 60% of the patients, which indicated the need for dental care for these patients. Caretakers should be informed of the importance of oral health and oral hygiene and encouraged to take responsibility for the oral care of the children living at home.

Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome.

OBJECTIVE: To examine the prevalence of dental anomalies in the deciduous and permanent teeth, ectopic eruption of permanent first molars, and associated oral malformations in individuals with Treacher Collins syndrome. STUDY DESIGN: Clinical and radiographic examination of 15 patients with Treacher Collins syndrome, from the Hospital for Rehabilitation of Craniofacial Anomalies of the University of São Paulo, not submitted to orthodontic or orthognathic treatment. RESULTS: Dental anomalies were present in 60% of the sample, with 1-8 anomalies per individual. Hypoplastic dental anomalies were the most common, followed by heterotopic and hyperplastic dental alterations. The most frequent anomalies were tooth agenesis (33.3%), mainly affecting the mandibular second premolars, and enamel opacities (20% of patients). Ectopic eruption of the maxillary first molars was found in 13.3% of subjects. Associated oral malformations, primarily isolated cleft palate, followed by complete cleft lip and palate and macrostomia, were observed in 66.7% of patients. CONCLUSIONS: Presence of cleft palate associated with the syndrome is in agreement with the literature. The high prevalence of dental anomalies suggests a possible etiologic relationship, not described in the literature so far, between such alterations and the Treacher Collins syndrome. Further investigations on larger samples are required to confirm these results.

Síndrome de Treacher Collins com atresia coanal: relato de caso e revisão de suas características / Treacher Collins syndrome with choanal atresia: a case report and review of disease features

A Síndrome de Treacher Collins ou disostose mandibulofacial apresenta-se com deformidades crânio-faciais, tendo expressão e severidade variável. É uma malformacão congênita que envolve o primeiro e segundo arcos branquiais. A Síndrome de Treacher Collins é rara e sua incidência está estimada em uma faixa de 1:40000 a 1:70000 nascidos vivos. Esta síndrome é caracterizada por anormalidades dos pavilhões auriculares, hipoplasia dos ossos da face, obliqüidade antimongolóide das fendas palpebrais com coloboma palpebral inferior e fissura palatina. A Síndrome de Treacher Collins raramente está associada com atresia coanal. Estes pacientes são apropriadamente acompanhados por uma equipe multidisciplinar que inclui cirurgiões crânio-faciais, oftalmologistas, fonoaudiologistas, cirurgiões dentistas e otorrinolaringologistas. Relatamos neste artigo um caso raro de Síndrome de Treacher Collins com atresia coanal, uma revisão da patologia e intervencão multidisciplinar.

Treacher Collins Syndrome with choanal atresia: a case report and review of disease features.

Treacher Collins Syndrome--or mandibulofacial dysostosis--is a rare condition that presents several craniofacial deformities of different levels. This is a congenital malformation involving the first and second branchial arches. Incidence is estimated to range between 1-40,000 to 1-70,000 of live births. The disorder is characterized by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. Treacher Collins Syndrome is rarely associated with choanal atresia. A multidisciplinary team, including craniofacial surgeon, ophthalmologist, speech therapist, dental surgeon and otorhinolaryngologist, is the most appropriate setting to manage these patients. This study reports a rare case of Treacher Collins Syndrome with choanal atresia, presenting literature review and multidisciplinary intervention.

Treacher-Collins syndrome and co-existing dermatomyositis.

BACKGROUND: Treacher-Collins syndrome, an autosomal dominantly inherited malformation of structures derived from the first and second branchial arch, has an incidence of 1:10,000 newborns. The prevalence of dermatomyositis at less than 24 years of age has been estimated at 1 per 100,000. The occurrence of both Treacher-Collins syndrome and dermatomyositis combined in the same patient should occur once in every 1,000,000,000 subjects. METHODS: We report a patient with Treacher-Collins syndrome who developed dermatomyositis at the age of 5 years. RESULTS: No other patient with both Treacher-Collins syndrome and an autoimmune disease has been reported. The thymus originates from the third branchial pouch and is unaffected by the syndrome. In Treacher-Collins syndrome the affected gene has been mapped to the fifth chromosome, while dermatomyositis is related to HLA B8 and DR3, coded on the sixth chromosome. No immunologic alteration has been described in patients with Treacher-Collins syndrome. CONCLUSION: This is the first report of a patient with Treacher-Collins syndrome and dermatomyositis. There is no genetic or physiopathologic explanation for the concurrence of both conditions.

Osteomielite de mandíbula por actinomicose cérvico facial associada a picnodisostose / Osteomyelitis of mandible due to cervico facial actinomycosis associated with pycnodysostosis

É apresentado um caso de paciente portadora de picnodisostose que apresentou osteomielite de mandíbula. Säo comentadas as dificuldades de um diagnóstico preciso da etiologia da osteomielite que, no caso presente, foi de actinomicose. É enfatizada a necessidade da realizaçäo de cultura de secreçäo e exame histopatológico dos fragmentos ósseos retirados

[Goldenhar syndrome. Report of 5 cases in association with cardiac malformations]. / Síndrome de Goldenhar. Relato de cino casos em associação com malformações cardíacas.

The paper presents five cases of the Syndrome described by Goldenhar, which consists in oculo-auriculo-vertebral alterations. Classic descriptions relate the presence of epibulbar dermoid, pre-auricular appendixes, mandible hypoplasia and vertebral anomalies. Excepting by some vertebral alterations, all the other anomalies were common to the five cases. This syndrome may be accompanied by congenital cardiopathy in a percentage varying from 15 to 50%, depending on the publications. The reason of hospitalization was the real presence of congenital cardiopathy of important clinical repercussion. Three patients had Tetrad of Fallot, one transposition of the great arteries, and the last one total annomalous pulmonary venous connection, which died due to clinical complications. The four patients were submitted to surgical correction of their cardiac defects, being the face defects programmed to the corrected later on.