Reconstrução nasal com uso de costela em paciente com síndrome de Binder: Um relato de caso e revisão de literatura / Nasal reconstruction using ribs in a patient with Binder syndrome: A case report and literature review

Introdução: A síndrome de Binder também pode ser conhecida como displasia maxilonasal e é uma malformação congênita caracterizada por hipoplasia nasomaxilar devido a um subdesenvolvimento do esqueleto facial médio. A atual incidência ou prevalência ainda é desconhecida, mas afeta aproximadamente um recém-nascido vivo em cada 10.000 nascimentos. O diagnóstico pode ser clínico ou associado a ultrassonografia pré-natal, caracterizada por nariz achatado e convexidade anormal da maxila. O tratamento é cirúrgico para correção das anormalidades estéticas e funcionais. Relato de Caso: Paciente que recebeu diagnóstico de síndrome de Binder aos 14 anos, sem outras malformações associadas, com queixa estética e funcional nasal. A correção cirúrgica foi iniciada pela extração de um bloco da sexta cartilagem costal à esquerda, com abertura nasal na margem columelar, no padrão de uma rinoplastia aberta, e dissecados os tecidos no plano subSMAS. Após preparo da área receptora nasal, foram esculpidos bloco de cartilagem para reconstrução do dorso nasal, enxertos alares e enxerto de cartilagem septal. Houve melhora de projeção da ponta nasal e alongamento nasal. Conclusão: A rinoplastia pode ser uma cirurgia desafiadora nesses pacientes, sendo a reconstrução autóloga com o uso de cartilagem costal indicada pela literatura como a melhor opção. É necessário individualizar cada caso para programação de enxertos e reestruturação nasal, sendo fundamental também a melhora funcional desses casos.

Introduction: Binder's syndrome can also be known as maxillonasal dysplasia and it is a congenital malformation characterized by nasomaxillary hypoplasia resulting from an underdevelopment of the middle facial skeleton. The current incidence or prevalence is still unknown, but it affects approximately one child in every 10,000 births. The diagnosis can be clinical or associated with prenatal ultrasonography, characterized by a flattened nose and abnormal maxillary convexity. The treatment is surgical to correct aesthetic and functional abnormalities. Case Report: Patient diagnosed with Binder's syndrome at the age of 14, without other associated malformations, with aesthetic and functional nasal complaints. Surgical correction began with the extraction of a block of the sixth costal cartilage on the left, with a nasal opening on the columellar margin, in the pattern of an open rhinoplasty, and tissue dissection in the sub-SMAS plane. After preparing the nasal receptor area, a block of cartilage was sculpted for reconstruction of the nasal dorsum, alar grafts and septal cartilage grafts. There was an improvement in the projection of the nasal tip and nasal dorsum. Conclusion: Rhinoplasty can be a challenging surgery in these patients, and the literature indicates that the best option is autologous reconstruction with costal cartilage. It is necessary to individualize each case to schedule nasal grafts and restructuring, and functional improvement in these cases is also essential

Fibrous dysplasia: rare manifestation in the temporal bone / Displasia fibrosa: manifestação rara no osso temporal

Abstract Introduction: Fibrous dysplasia is a benign disorder, in which normal bone is replaced by fibrosis and immature bone trabeculae, showing a similar distribution between the genders, and being more prevalent in the earlier decades of life. Fibrous dysplasia of the temporal bone is a rare condition, and there is no consensus as to whether it is more common in monostotic or polyostotic forms. External auditory meatus stenosis and conductive dysacusis are the most common manifestations, with cholesteatoma being a common complication, whereas the involvement of the otic capsule is an unusual one. Surgical treatment is indicated to control pain or dysacusis, otorrhea, cholesteatoma, and deformity. Objectives: To describe the clinical experience of a tertiary referral hospital with cases of fibrous dysplasia of the temporal bone. Methods: Sampling of patients diagnosed with fibrous dysplasia of the temporal bone, confirmed by tomography, treated at the pediatric otology and otorhinolaryngology outpatient clinics, between 2015 and 2018. The assessed variables were age, gender, laterality, external auditory meatus stenosis, deformity, hearing loss, presence of secondary cholesteatoma of the external auditory meatus, lesion extension and management. Results: Five patients were included, four females and one male, with age ranging from 13 to 34 years. Three had the polyostotic form and two the monostotic form of fibrous dysplasia of the temporal bone. Four patients had local deformity and external auditory meatus stenosis, two of which progressed to cholesteatoma. All patients showed some degree of hearing impairment. All had preserved otic capsule at the tomography. Two patients are currently undergoing clinical observation; two were submitted to tympanomastoidectomy due to secondary cholesteatoma; one was submitted to lesion resection, aiming to control the dysacusis progression. Conclusion: Five cases of fibrous dysplasia of the temporal bone were described, a rare disorder of which the otologist should be aware.

Resumo Introdução: Displasia fibrosa é uma desordem benigna, na qual o osso é substituído por fibrose e trabeculado ósseo imaturo, com distribuição semelhante entre sexos, mais comum nas primeiras décadas de vida. O acometimento do osso temporal pela displasia fibrosa é raro, não há consenso se é mais comum nas formas monostóticas ou poliostóticas. Estenose do meato acústico externo e disacusia condutiva são as manifestações mais comuns. Colesteatoma é também uma complicação comum e o acometimento da cápsula ótica incomum. O tratamento cirúrgico está indicado para controle de dor ou disacusia, otorreia, colesteatoma, deformidade. Objetivos: Descrever a experiência clínica de hospital terciário de referência com casos de displasia fibrosa do osso temporal. Método: Amostragem dos pacientes com diagnóstico de displasia fibrosa do osso temporal, confirmado pela tomografia, atendidos nos ambulatórios de otologia e otorrinolaringologia pediátrica, entre 2015 e 2018. As variáveis avaliadas foram idade, gênero, lateralidade, estenose do meato acústico externo, deformidade, perda auditiva, presença de colesteatoma secundário de meato acústico externo, extensão da lesão e conduta adotada. Resultados: Foram incluídos cinco pacientes, quatro do sexo feminino e um masculino, de 13-34 anos. Três apresentaram a forma poliostótica da displasia fibrosa do osso temporal e dois a forma monostótica. Quatro apresentaram deformidade local e estenose do meato acústico externo, dois desses evoluíram com colesteatoma. Todos manifestaram algum grau de comprometimento auditivo. Todos apresentaram cápsula ótica preservada na tomografia. Duas pacientes estão em observação clínica; duas foram submetidas a timpanomastoidectomia devido a colesteatoma secundário; um foi submetido a ressecção da lesão para controle de progressão da disacusia. Conclusão: Foram descritos cinco casos de displasia fibrosa do osso temporal, desordem rara para a qual o otologista deve estar atento.

Mutation analysis of the FGFR3 gene in a patient with Crouzon syndrome complicated by acanthosis nigricans / 中华皮肤科杂志

A 7-year-old female patient presented with frontal bossing and exophthalmos complicated by skin pigmentation all over the body for 7 years.Pigmentation was seen on the flexor aspects of the bilateral elbows 1 week after birth,and skin pigmentation gradually appeared at multiple body sites 1 year later.She had suffered from lacrimal duct obstruction since childhood,and repeated dredging of the duct was ineffective.Parents of the child were healthy and non-consanguineous marriage,and had no family history of the same disease.Physical examination showed square-shaped skull,frontal bossing,maxillary hypoplasia,mandibular prognathism,exophthalmos,ocular hypertelorism,depressed nasal bridge,dental malocclusion,and irregular dentition.Skin examination showed dark brown skin all over the body,coarse skin on the neck,axillary and inguinal regions,papillomatous cutaneous thickening,with velvet-like appearance.The patient was diagnosed with Crouzon syndrome complicated by acanthosis nigricans (CAN).Polymerase chain reaction (PCR)and DNA sequencing were performed to detect mutations in the FGFR3 gene in the patient with CAN,her parents and 100 unrelated healthy controls.A heterozygous missense mutation (C.1172 C ＞ A) was identified in the FGFR3 gene in the proband,but not in her parents or the 100 unrelated healthy controls.The missense mutation in the FGFR3 gene may be a causative mutation leading to the clinical manifestations of the patient.

Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system / Craniossinostoses sindrômicas: habilidades neuropsicolinguísticas e análise por imagem do sistema nervoso central

ABSTRACT Objective: To characterize patients with syndromic craniosynostosis with respect to their neuropsycholinguistic abilities and to present these findings together with the brain abnormalities. Methods: Eighteen patients with a diagnosis of syndromic craniosynostosis were studied. Eight patients had Apert syndrome and 10 had Crouzon syndrome. They were submitted to phonological evaluation, neuropsychological evaluation and magnetic resonance imaging of the brain. The phonological evaluation was done by behavioral observation of the language, the Peabody test, Token test and a school achievement test. The neuropsychological evaluation included the WISC III and WAIS tests. Results: Abnormalities in language abilities were observed and the school achievement test showed abnormalities in 66.67% of the patients. A normal intelligence quotient was observed in 39.3% of the patients, and congenital abnormalities of the central nervous system were observed in 46.4% of the patients. Conclusion: Abnormalities of language abilities were observed in the majority of patients with syndromic craniosynostosis, and low cognitive performance was also observed.

RESUMO Objetivo: Caracterizar as habilidades neuropsicolinguísticas de indivíduos com craniossinostoses sindrômicas e apresentar esses achados com as anomalias do sistema nervoso central. Métodos: Participaram do estudo 18 sujeitos com diagnóstico clínico de craniossinostose sindrômica, 44,4% com a síndrome de Apert e 55,6% síndrome de Crouzon. Todos os sujeitos foram submetidos a avaliação fonoaudiológica, psicológica e exames de ressonância magnética do encéfalo. A avaliação fonoaudiológica foi contemplada pela Observação Comportamental da Linguagem, Teste Peabody (TVIP), Teste Token e Teste de Desempenho Escolar (TDE); enquanto a psicológica utilizou a WISC-III e a WAIS. Resultados: Observou-se alteração nas habilidades de linguagem em todos os protocolos utilizados, sendo o TDE o que apresentou maior porcentagem de alteração (66,67%).A avaliação cognitiva evidenciou quociente de inteligência dentro da média em 39,3% dos sujeitos, enquanto que 46,4% apresentaram malformações congênitas do sistema nervoso central. Conclusão: Constatou-se alterações nas habilidades de linguagem na maioria dos sujeitos com craniossinostoses sindrômicas, bem como o baixo desempenho cognitivo.

Implicaciones anestésicas del Síndrome de Parry-Romberg; reporte de un caso / Anesthetic implications of Parry Romberg Syndrome: A case report

Introduction: Parry-Romberg Syndrome is a rare degenerative disease characterized by unilateral atrophy affecting the skin, connective tissue, muscle and bone. The end result is facial asymmetry associated with other skin, dental, visual, cardiovascular, and neurological disorders. Clinical findings, diagnostic evaluation and interventions: The case of a patient with Parry-Romberg Syndrome programmed for frontonasal flap remodeling is discussed. The patient's history includes trigeminal neuralgia, epilepsy, and two previous surgical interventions. Uneventful endotracheal intubation with the Glideoscope® video laryngoscope was performed, upon adequate pre-oxygenation followed by anesthetic induction. Conclusion: The phenotypical characteristics of Parry Romberg Syndrome are severe facial hemiatrophy and craniofacial anomalies that require careful preoperative evaluation and management of a potentially difficult airway. Consequently, the use of video laryngoscopes is a first-line approach. Due to the syndrome's associated disorders, it is essential to maintain hemodynamic stability and prevent any potential seizures.

Introducción: El Síndrome de Parry-Romberg es una enfermedad degenerativa poco común, caracterizada por una atrofia unilateral que afecta la piel, el tejido conjuntivo, el músculo y el hueso. El resultado final es una asimetría facial cursando con otras alteraciones cutáneas, dentales, oculares, cardiovasculares y neurológicas. Hallazgos clínicos, evaluación diagnóstica e intervenciones: Presentamos un caso de un paciente con Síndrome de Parry-Romberg programado para remodelación de colgajo frontonasal. Entre sus antecedentes destacan neuralgia del trigémino, epilepsia y dos intervenciones quirúrgicas previas. Tras una adecuada preoxigenación y posterior inducción anestésica, se realiza una intubación endotraqueal sin incidencias mediante el videolaringoscopio Glideoscope®. Conclusión: El Síndrome de Parry Romberg presenta como características fenotípicas hemiatrofia facial grave y anomalías craneofaciales, que requieren una cuidadosa evaluación preoperatoria y el manejo de una vía aérea potencialmente difícil. Es por esto que los videolaringoscopios resultan una alternativa de primera línea. Debido a sus trastornos asociados, es esencial mantener la estabilidad hemodinámica y la prevención de posibles crisis convulsivas.

Genetic Autosomal Dominant Disorders: A Knowledge Review / Trastornos Autosómicos Dominantes: Una Revisión de los Conocimientos

Genetic disorders occur by excess or absence of chromosomal material, and the consequence of these changes is reflected in morphological and physiological changes. Autosomal disorders, which have dominant inheritance, as cleidocranial dysostosis, Craniofacial syndrome Apert, Treacher Collins and Achondroplasia have peculiar and similar characteristics. Because of their implications in the dental field, the aim of this review is to report on dysostoses, through exposure of general clinical factors and highlighting the signs in the oral cavity. Articles were selected from Lilacs, PubMed and Bireme databases, included in the year 2007­2014, and the keywords were: cleidocranial dysplasia, craniofacial dysostosis, mandibulofacial dysostosis, dysostosis and oral. Alterations of maxillofacial bones and craniofacial are well documented in the literature, but studies reporting an association between treatment odontologic and dysostoses are scarce. In conclusion, Oral pathological manifestations developed cause difficulty in speech, chewing, breathing, social involvement, and in a general perspective, psychological impairment and physical limitations.

Las enfermedades genéticas se producen debido a un exceso o ausencia de material cromosómico, y la consecuencia de estos cambios se refleja en los cambios morfológicos y fisiológicos. Trastornos autosómicos dominantes que tienen herencia dominante, como la disostosis cleidocraneal, el síndrome craneofacial de Apert, Treacher Collins y acondroplasia tiene características peculiares y similares. Debido a sus implicaciones en el campo de la odontología, el objetivo de esta revisión es hablar, a través de la exposición de los factores clínicos y generales, destacando los signos en la cavidad oral. Se seleccionaron los artículos de las bases de datos Lilacs, PubMed y BIREME, incluyendo los años 2007-2014, y las palabras clave fueron: displasia cleidocraneal, craneofacial mandibulofacial disostosis, disostosis y oral. Los cambios de huesos maxilofaciales y craneofaciales están bien documentados en la literatura, pero los estudios que informaron una asociación entre el tratamiento dental y disostosis son escasos. En conclusion, las manifestaciones orales son causas de dificultades del habla, masticación, respiración y la participación social.

Spring-mediated skull expansion: overall effects in sutural and parasutural areas. An experimental study in rabbits / Expansão craniana com molas: efeitos globais nas áreas suturais e parassuturais. Estudo experimental em coelhos

Purpose: The use of springs in cranial expansion has proven to be effective in the treatment of craniosynostosis. Spring-mediated expansion has been studied both in the sagittal and in parasagittal regions, especially in scaphocephaly. A rabbit model was used in the present study to analyze the effects of springs on the cranial vault and sutures. Methods: Thirteen 4-week-old New Zealand rabbits were divided into 4 groups: in group I, only amalgam markers were used as control; in group II, amalgam markers were used and sagittal suturectomy was performed; in group III, amalgam markers were used, a sagittal suturectomy was performed and an expansible spring was fitted in the interparietal region and in group IV, markers were used and linear parasagittal craniectomy was carried out with springs. Animals were sacrificed after 2, 4, 8 and 12 weeks. Radiological control and histological analysis were performed in the area of spring implantation. RESULTS: In the groups using springs distraction of the craniectomy borders was greater than in those that did not use springs. New bone formation was observed in all groups, and was faster in group II. Bone growth started from the borders and depth. Bone regeneration presented a similar histological pattern in the groups with spring in the sagittal and parasagittal region. Conclusion: The rabbit model proved to be adequate for the analysis proposed by the study. The use of springs in the groups with sagittal and parasagittal osteotomy led to a similar distraction of amalgam markers and both groups had similar ossification histological pattern.

Objetivo: O uso de molas na expansão craniana tem provado ser efetivo no tratamento da craniossinostoses. A expansão com molas tem sido estudada nas regiões sagital e parassagital, especialmente nas escafocefalias. Um modelo com coelho foi usado no presente estudo para analizar os efeitos das molas sobre a calota craniana e suturas. Métodos: Treze coelhos Nova Zelândia, com quarto semanas de vida, foram divididos em quatro grupos: no grupo I, somente marcadores de amálgama foram implantados como controle; no grupo II, marcadores de amálgama foram implantados e foi retirada a sutura sagital; no grupo III, marcadores de amálgama foram implantados, foi retirada a sutura sagital e foi colocada uma mola expansora na região interparietal e no grupo IV, marcadores de amálgamas foram implantados, uma craniectomia linear parassagital foi realizada e foi colocada uma mola expansora. Os animais foram sacrificados com 2, 4, 8 e 12 semanas. Foi realizado controle radiológico e histológico nas áreas de implantação das molas. RESULTADOS: Nos grupos que utilizaram molas a distração das margens ósseas de craniectomia foi maior do que nos grupos que não utilizaram molas. Neoformação óssea foi observada em todos os grupos, tendo sido mais rápida no grupo II. O crescimento ósseo teve início a partir das margens e da profundidade. A regeneração óssea apresentou padrões histológicos similares nos grupos com o uso de molas na região sagital e parassagital. Conclusões: O modelo experimental com coelho provou ser adequado para a análise proposta pelo estudo. O uso das molas nos grupos com osteotomia sagital e parassagital promoveu uma distração similar dos marcadores de amálgamas e ambos os grupos tiveram padrão histológico de ossificação similar.

Two cases of craniofacial dysostosis / 대한구강악안면방사선학회지

Craniofacial dysostosis is considered to be one of rarely observed syndromes characterized by premature closing of all cranial sutures. The first patient was a 4-year-old male infant who had been complaining of empyema. Clinical findings showed exophthalmos, hypertelorism and facial asymmetry. Conventional radiographs demonstrated abscence of cranial sutures and underdeveloped maxilla. CT scan demonstrated the digital impressions of the inner surface of the cranial vault, enlarged and depressed sella turcica. The second patient was a 2-year-old female infant who had been complaining of facial deformity. Clinical findings showed hypertelorism and underdeveloped maxilla. Radiographs showed premature synostosis of all cranial sutures, depressed and enlarged sella turcica, and hypoplastic maxilla. 3 years after operation, her look improved. However, resurgery may be considered to decreasing intracranial pressure and for correction of facial deformity. Two interesting cases showing 'cloverleaf'skulls were presented.