Síndrome de Apert: alternativas de tratamiento ortodóntico - quirúrgico y tiempos de ejecución. Una revisión de la literatura / Apert Syndrome: Orthodontic - Surgical treatment alternatives and execution times. A review of the literature

Objetivo: realizar una revisión de la literatura acerca de los tratamientos ortodónticos y quirúrgicos del síndrome de Apert durante las diferentes etapas de crecimiento y desarrollo. Métodos: se llevó a cabo una búsqueda en las bases de datos MedLine (PubMed), Science Direct, Scopus y Wiley Online Library con la combinación de los siguientes términos: Syndromic craniosynostosis, Dental treatment, orthodontic treatment, Apert Syndrome, surgical treatment, dental care. Se incluyeron revisiones sistemáticas y de literatura, estudios retrospectivos, longitudinales y de cohorte, series y revisiones de caso publicados entre 1990 y 2020 en español o inglés; se excluyeron artículos relacionados con otros síndromes, así como estudios en animales. Los artículos fueron seleccionados según su pertinencia y disponibilidad de texto completo; hallazgos repetidos fueron eliminados; adicionalmente, se utilizó el sistema bola de nieve en los artículos seleccionados; la calidad de la evidencia fue evaluada mediante el sistema GRADE. Resultados: 34 artículos fueron incluidos (calidad alta: 2, moderada: 1, baja: 19 y muy baja: 12). Entre estos, se identificaron discusiones relacionadas con la etapa de crecimiento a la que se recomienda realizar los procedimientos quirúrgicos requeridos para minimizar sus impactos negativos. La mayoría de los artículos apoyan el manejo terapéutico ejecutado por equipos multidisciplinarios. Conclusiones: un plan de tratamiento combinado de ortodoncia y cirugía ortognática se presentó como la mejor opción para obtener los mejores resultados funcionales y estéticos para la población en cuestión. El momento adecuado durante el crecimiento y desarrollo de los individuos para implementar cada fase de tratamiento fue decidido por cada equipo multidisciplinario.

Objective: Carry out a literature review about the orthodontic and surgical treatments of Apert Syndrome, during the different stages of growth and development. Methods: A search was made in the MedLine (PubMed), Science Direct, Scopus, and Wiley Online Library databases with the combination of the following terms: Syndromic craniosynostosis; Dental treatment; orthodontic treatment; Apert Syndrome; surgical treatment; dental care. Types of the study included: Systematic and literature reviews, retrospective, longitudinal, and cohort studies, series, and case reviews that were published between 1990-2020 in Spanish or English; articles related to other syndromes and animal, or laboratory studies were excluded. The articles were selected according to relevance and availability of full text; repeated findings were eliminated; additionally, the snowball system was used in the selected articles; the quality of the evidence was evaluated using the GRADE system. Results: 34 articles were included (High Quality: 2; Moderate: 1; Low: 19; Very Low: 12). Controversies were found related to the stage of growth to which it is recommended to perform the required surgical procedures to minimize the negative impacts. Most of the articles support therapeutic management by multidisciplinary teams. Conclusions: A combined orthodontic and orthognathic surgery treatment plan was presented as the indicated option to obtain the best possible functional and aesthetic results for the population in question. The appropriate time during the growth and development of individuals to implement each treatment phase was decided by each multidisciplinary team.

Síndrome de Apert: Acrocefalosindactilia, Caso Clínico / Apert Syndrome: Acrocephalosyndactyly, Clinical Case

Introducción:El síndrome de Apert tiene una incidencia variable. Se ha estimado una prevalencia de 1:160milnacimientos. Es de herencia autosómica dominante y se han encontrado algunos factores relacionados, como edad paterna avanzada. Caso:Niña, recién nacida a término, con dificultad respiratoria, hipotonía, sindactiliay retardo del neurodesarrollo. Con Tomografía de Senos paranasales se reportó una malformación del canal semicircular lateral y del vestíbulo bilateral, se confirmó la presencia de una estenosis nasal derecha con desviación septal hacia la derecha y la presencia de estenosis bilateral de coanas. Con una TAC de cráneo se reportó Plagiocefalia unilateral izquierdaylapresencia de craneosinostosis. Evolución: En hospitalización se logró el retiro del oxígeno suplementario, recibió terapia miofuncional con lo que toleró adecuadamente la alimentación oral y se programó la corrección de estenosis de coanas en forma ambulatoria la cual se realizó a los 14 meses. A los18 meses se realizó la cirugía de corrección de craneosinostosis con un avance fronto-orbitario, durante el período post-operatorio la paciente desarrolló una neumonía que fue tratada con antibióticos. Al resolverse el cuadro, fue dada de alta. Conclusión:el Síndrome de Apert, un desorden congénito caracterizado por craneosinostosis coronal, sindactilia simétrica en las cuatro extremidades y malformaciones craneofaciales. El diagnóstico es clínico.El tratamiento es sintomático, relacionado con las diferentes malformaciones asociadas y se debe realizar un manejo interdisciplinario

Introduction: Apert syndrome has a variable incidence. A prevalence of 1: 160 thousand births has been estimated. It is autosomal dominant and some related factors have been found, such as advanced paternal age. Case: Girl, newborn at term, with respiratory distress, hypotonia, syndactyly and neurodevelopmental delay. With Paranasal Sinus Tomography, a malformation of the lateral semicircular canal and the bilateral vestibule was reported, the presence of a right nasal stenosis with septal deviation to the right and the presence of bilateral choanal stenosis was confirmed. With a CT of the skull, left unilateral plagiocephaly and the presence of craniosynostosis were reported. Evolution: In hospitalization, the withdrawal of supplemental oxygen was achieved, he received myofunctional therapy with which he tolerated oral feeding adequately and the correction of choanal stenosis was scheduled on an outpatient basis, which was performed at 14 months. At 18 months, craniosynostosis correction surgery was performed with a fronto-orbital advance, during the postoperative period the patient developed pneumonia that was treated with antibiotics. When the picture was resolved, she was discharged. Conclusion: Apert Syndrome, a congenital disorder characterized by coronal craniosynostosis, symmetric syndactyly in all four limbs, and craniofacial malformations. The diagnosis is clinical. Treatment is symptomatic, related to the different associated malformations and interdisciplinary management must be carried out

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Clinical and genetic findings of two cases with Apert syndrome / Hallazgos clínicos y genéticos de dos casos con síndrome de Apert

Abstract Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.

Resumen Introducción: Las craneosinostosis se describen como la fusión prematura de las suturas craneales y resultan un grupo de alteraciones que producen un fenotipo anormal. Caso clínico: En este informe de casos se presentan dos pacientes de sexo femenino no emparentadas con hallazgos clínicos del síndrome de Apert, caracterizado por acrocefalia, región frontal prominente, occipucio plano, proptosis ocular, hipertelorismo, fisuras palpebrales hacia abajo, hipoplasia mediofacial, paladar alto o hendido, cuello corto, cardiopatía congénita y sindactilia simétrica en manos y pies. En ambas pacientes se identificó una mutación cambio de sentido en heterocigosis (c.755C>G, p.Ser252Trp) en el gen FGFR2. Conclusiones: Se presentan dos casos de síndrome de Apert. Es importante reconocer a través de los hallazgos clínicos esta entidad infrecuente, resaltar la evaluación médica interdisciplinaria y proporcionar un oportuno asesoramiento genético a la familia.

Clinical and genetic findings of two cases with Apert syndrome.

Background: Craniosynostosis is described as the premature fusion of cranial sutures that belongs to a group of alterations which produce an abnormal phenotype. Case report: Two unrelated female patients with clinical findings of Apert syndrome-characterized by acrocephaly, prominent frontal region, flat occiput, ocular proptosis, hypertelorism, down-slanted palpebral fissures, midfacial hypoplasia, high-arched or cleft palate, short neck, cardiac anomalies and symmetrical syndactyly of the hands and feet-are present. In both patients, a heterozygous missense mutation (c.755C>G, p.Ser252Trp) in the FGFR2 gene was identified. Conclusions: Two cases of Apert syndrome are described. It is important to recognize this uncommon entity through clinical findings, highlight interdisciplinary medical evaluation, and provide timely genetic counseling for the family.

Introducción: Las craneosinostosis se describen como la fusión prematura de las suturas craneales y resultan un grupo de alteraciones que producen un fenotipo anormal. Caso clínico: En este informe de casos se presentan dos pacientes de sexo femenino no emparentadas con hallazgos clínicos del síndrome de Apert, caracterizado por acrocefalia, región frontal prominente, occipucio plano, proptosis ocular, hipertelorismo, fisuras palpebrales hacia abajo, hipoplasia mediofacial, paladar alto o hendido, cuello corto, cardiopatía congénita y sindactilia simétrica en manos y pies. En ambas pacientes se identificó una mutación cambio de sentido en heterocigosis (c.755C>G, p.Ser252Trp) en el gen FGFR2. Conclusiones: Se presentan dos casos de síndrome de Apert. Es importante reconocer a través de los hallazgos clínicos esta entidad infrecuente, resaltar la evaluación médica interdisciplinaria y proporcionar un oportuno asesoramiento genético a la familia.

Diagnóstico y evolución de un paciente con acrocefalosindactilia tipo I o síndrome de Apert / Diagnosis and progress of a patient with type 1 acrocephalosyndactyly or Aperts syndrome

El síndrome de Apert es una afección genética que constituye una rareza médica, dada su escasa frecuencia; se caracteriza por craneosinostosis congénita, sindactilia de las manos y de los pies, anquilosis diversas y sinostosis progresiva de las manos, los pies y la columna vertebral, además de diversas alteraciones funcionales que varían mucho de un enfermo a otro. Su prevalencia se estima de 1 en 65 mil, aproximadamente, 15,5 por cada 1 millón de nacidos vivos. Se presenta el caso de una niña con las características clínicas de un síndrome de Apert, diagnosticada antes del año de edad y evolucionada hasta la actualidad. Intervenida quirúrgicamente en tres ocasiones de ambas manos por la sindactilia bilateral, rehabilitada con resultados satisfactorios. A los siete años muestra maloclusión dentaria y afectación de la visión, pendiente de cirugía en los pies por la sindactilia. Tiene dificultad para la marcha y falta de equilibrio(AU)

Aperts syndrome is a rare genetic condition because of its small frequency and is characterized by congenital craniosynostosis, syndactyly of the hands and feet, several ankylosis and progressive synostosis of the hands, feet and spine, as well as several functional alterations that vary greatly from one patient to another. Its prevalence is estimated to be 1 in 65,000, approximately 15,5 per 1,000,000 live births. This study presents the case of a girl with the clinical characteristics of Aperts syndrome, who was diagnosed before the year of age and who has been followed-up to the present. The patient was surgically operated on both hands three times due to bilateral syndactyly and has been rehabilitated with satisfactory results. At the age of seven she presented dental malocclusion and vision impairment. The patient is waiting for surgery on the feet due to syndactyly. She has difficulty walking and lack of balance(AU)

Manifestações bucais da síndrome de apert: relato de caso clínico / Expressions of oral apert syndrome: clinical case report

A Síndrome de Apert, também chamada de acrocefalossindactilia tipo 1, é caracterizada pelo encerramento prematuro das suturas cranianas (craniossinostose), sindactilia simétrica das mãos e dos pés e anomalias faciais. Outras anormalidades observadas são atraso mental, anquilose articular e anomalias da coluna vertebral. Destacam-se, ainda, a hipoplasia da face média com Classe III, lábios hipotônicos, úvula bífida, erupção ectópica, má oclusão e pseudofenda palatina. A cavidade bucal desses pacientes apresenta normalmente uma redução no tamanho da maxila, em particular na direção anteroposterior. Essa redução pode resultar em apinhamento dentário e uma mordida aberta anterior. A mandíbula está dentro do tamanho e da forma normal, e simula um pseudoprognatismo. Anomalias dentárias, tais como dentes inclusos, erupção retardada, agenesia dentária, hipoplasia do esmalte, dentes ectópicos ou supranumerários são comumente observadas. Diante da necessidade de um tratamento multidisciplinar e da relevância do cirurgião-dentista no acompanhamento desses pacientes, o objetivo deste relato é descrever as manifestações bucais da síndrome, enfatizando as características mais frequentes no período de transição da dentição decídua para a dentição permanente.

Apert syndrome, also called acrocephalosyndactyly type 1, is characterized by the premature closure of the cranial sutures (craniosynostosis), symmetric syndactyly of the hands and feet and facial anomalies of the midline. People with Aper syndrome have craniofacial abnormalities as exophthalmos, ocular hy-pertelorism, broad and short nose with a bulbous tip. The patients have hypoplasia midface with Class III, hypotonic lips, cleft uvula, ectopic eruption, malocclusion and pseudo cleft palate. The oral cavity usually these patients showed a reduction in the size of the jaw, in particular in the rearward direction. This reduc¬tion may result in tooth crowding and in an anterior open bite. The jaw size is within the normal way and simulates a pseudoprognathism. Dental anomalies, such as impacted teeth, delayed eruption, tooth agenesis, enamel hypoplasia, ectopic or supernumerary teeth are commonly observed. Given the need for a multidis¬ciplinary approach and the relevance of the dentist in monitoring these patients, the objective of this report is to describe the oral manifestations of the syndrome emphasizing the most common features in the transition period of the deciduous dentition to the permanent dentition.

Absceso cerebral por Haemophilus influenzae serotipo e en un paciente pediátrico con Síndrome de Apert / Brain abscess caused by Haemophilus influenzae type e in a pediatric patient suffering from Apert syndrome

Se presenta el caso de un absceso cerebral causado por Haemophilus infl uenzae tipo e, en un paciente de 12 años con síndrome de Apert. El síndrome de Apert se caracteriza por el cierre prematuro de las suturas craneales. En 2010, el paciente presentó traumatismo craneano en región frontal, fractura y fístula de líquido cefalorraquídeo. En febrero de 2013 consultó por fi ebre, vómitos y convulsión tónica clónica generalizada, con deterioro progresivo del sensorio. La tomografía axial computarizada mostró una lesión frontal derecha, edema perilesional, leve dilatación ventricular y pansinusitis. Se diagnosticó absceso cerebral con pioventriculitis y se realizó drenaje. Se obtuvo desarrollo de un cocobacilo gram negativo, que fue identifi cado como H. infl uenzae serotipo e. Se realizó tratamiento empírico con meropenem (120 mg/kg/día) y vancomicina (60 mg/kg/día). Luego del resultado del cultivo, se rotó a ceftriaxona (100 mg/kg/día) y metronidazol (500 mg/8 h). El paciente cumplió 8 semanas de tratamiento y se observó evolución favorable

We report a case of a brain abscess caused by Haemophilus infl uenzae type e in a 12 year-old patient suffering from Apert syndrome. Apert syndrome is characterized by the premature closure of cranial sutures. In 2010 the patient suffered head trauma in the frontal area with cranial fracture and a cerebrospinal fl uid fi stula. In February 2013 he was admitted to hospital with fever, vomiting and generalized tonic-clonic seizure with deteriorating mental status/progressive sensory impairment. The computerized axial tomographic scan showed a right frontal lesion, perilesional edema, mild ventricular dilatation and pansinusitis. A brain abscess was diagnosed and drained. The clinical sample was then cultured. A gram negative coccobacillus was isolated and identifi ed as Haemophilus infl uenzae serotype e. Empirical treatment was started with meropenem (120 mg/kg/day) and vancomycin (60 mg/kg/day), which was later switched to ceftriaxone (100 mg/kg/day) and metronidazole (500 mg/8 h) after culture results arrived. The patient was discharged in good clinical condition

Criança com Síndrome de Apert: diagnóstico clínico-radiográfico, manifestações orofaciais e qualidade de vida / Child with Apert Syndrome: clinical and radiographic diagnosis, orofacial manifestations and quality of life

Este relato de caso mostra o diagnóstico de uma patologia congênita rara: Síndrome de Apert. Paciente do sexo feminino, 12 anos, melanoderma, apresentou aos exames clínico e radiográfico: acrobraquicefalia, sindactilia em mãos e pés, acne facial, nariz disforme, retrusão maxilar, pseudoprognatismo, hipertelorismo, proptose ocular, depressão das fissuras palpebrais laterais, lábios em forma trapezoidal, lábio superior protruso, pseudomacroglossia, mordida aberta anterior, mordida cruzadaposterior, palato em arco bizantino, múltiplas anomalias dentárias de posição (apinhamento dental maxilar e giroversões) e forma (ponte de esmalte pronunciada em incisivos laterais e taurodontismo em segundos molares), e alongamento do processo estilóide bilateral. A qualidade de saúde bucal da paciente era insatisfatória, com excesso de biofilme oral, cárie, doença periodontal e comprometimento endodôntico. O teste AUQEI apontou que a criança possuía baixa a moderada qualidade de vida. Este caso destaca a importância do diagnóstico precoce para intervenções clínico-cirúrgicas mais eficazes e o valor da equipe multidisciplinar no acompanhamento contínuo e na melhora da qualidade de vida de pacientes infantis portadores de anomalias congênitas severas.

This case report shows the diagnosis of a rare congenital pathology: Apert syndrome. A 12-year-old female patient, melanoderm, presented in clinical and radiographic examinations: acrobraquicephalia, syndactilia in hands and feet, facial acne, unshapely nose, maxillary retrusion, pseudoprognatism, hypertelorism, ocular proptosis, depression of the lateral palpebral fissures, trapezoid shaped appearance to the lips, upper lip protrusion, pseudomacroglossia, anterior open bite, posterior crossbite,Byzantine-arch palate, multiple dental anomalies of position (maxillary dental crowding and dental rotation) and shape (pronounced enamel bridge in lateral incisors and taurodontism in second molar teeth) and bilateral elongated styloid process. The quality of oral health was unsatisfactory in the patient, with excessive oral biofilm, carie lesion, periodontal disease and endodontic involvement. The AUQEI test showed that the child had a low to moderate quality of life. This case highlight the importance of an early diagnosis for more effective clinical and surgical interventions and the value of a multidisciplinary team in the continuousmonitoring and improvement of quality of life in pediatric patients with severe congenital abnormalities.

Craneoestenosis. II. Análisis de las craneoestenosis sindromáticas y diferentes tipos de tratamiento / Craneosynostosis. II. Analysis of syndromatic craniosynostosis and different types of treatment

En esta segunda parte del trabajo de revisión de las craneoestenosis se analizan los diferentes tipos de craneoestenosis sindromáticas, sus características clínicas, imagenológicas y, en los casos que se conocen, las alteraciones genéticas. También se describen los diferentes tipos de tratamientos para las craneoestenosis, tanto sindromáticas como no sindrómaticas, desde los tratamientos quirúrgicos clásicos para lograr la descompresión cerebral, la restauración de la anatomía y proporcionar el mayor grado de estética al menor. Por último, se incluye información acerca de los tratamientos de vanguardia como son las técnicas en ingeniería de tejidos, la utilización de sistemas bioabsorbibles, de sistemas de distracción ósea e, incluso, la cirugía endoscópica. Se espera que pronto exista un mayor número de publicaciones que reporten el éxito de estas nuevas técnicas.

In this second part of the Review Article on craniosynostosis, different types of syndromatic craniosynostosis are analyzed along with clinical and imaging aspects and, in known cases, embryogenetic alterations. Different types of treatments are also described for both syndromic and nonsyndromic craniosynostosis. These range from the classic surgical treatments for achieving brain decompression, restoring the anatomy and providing the highest degree of aesthetics for the child. Last, but not least, information on cutting-edge treatments such as techniques in tissue engineering, use of bioabsorbable bone distractors and even endoscopic surgical systems are included. It is expected that in the near future there should be a greater number of publications that report the success of these new techniques.

Apert syndrome: clinical and radiographic features and case report / Síndrome de Apert: características clínicas e radiográficas e relato de caso

PURPOSE: Apert syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. Presents autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptors gene. The oral cavity of Apert patients includes a reduction in the size of the maxilla, tooth crowding, anterior open-bite of the maxilla, impacted teeth, delayed eruption, ectopic eruption, supernumerary teeth, and thick gingiva. The mandible usually is within normal size and shape, and simulates a pseudoprognathism. CASE DESCRIPTION: A female patient, 13 years old, with diagnosis of Apert syndrome, attended a dental radiology clinic. The clinical signs were occular anomalies, dysmorphic facial features, syndactyly and oral features observed clinically and radiographically. The patient was referred to a specialized center of clinical care for patients with special needs. CONCLUSION: Because of the multiple alterations in patients with Apert syndrome, a multidisciplinary approach, including dentists and neurosurgeons, plastic surgeons, ophthalmologists and geneticists, is essential for a successful planning and treatment.

OBJETIVO: A síndrome de Apert é um tipo raro de acrocefalossindactilia do tipo I caracterizada por cranioestenose, sindactilia severa das mãos e dos pés, e características faciais dismórficas. Apresenta herança autossômica dominante atribuída a mutações no gene referente aos receptores do fator de crescimento de fibroblastos. A cavidade oral de pacientes de Apert apresenta uma redução no tamanho da maxila, apinhamento dentário, mordida aberta anterior da mandíbula superior, dentes retidos, erupção atrasada, erupção ectópica, dentes supranumerários, gengival e espessura. A mandíbula é no tamanho e forma normais, e simula um pseudoprognatismo. Um caso de síndrome de Apert é apresentado. DESCRIÇÃO DO CASO: Paciente do sexo feminino, 13 anos de idade, com diagnóstico de síndrome de Apert, foi atendida em um serviço de radiologia odontológica. A paciente apresentava anomalias oculares, características faciais dismórficas e sindactilia, aos exames clínico e radiográfico. A paciente foi encaminhada a um centro especializado para atenção a pessoas com necessidades especiais. CONCLUSÃO: Uma abordagem multidisciplinar, incluindo cirurgiões-dentistas e neurocirurgiões, cirurgiões plásticos, oftalmologistas e geneticistas, é essencial para um planejamento bem sucedido e tratamento de casos de síndrome de Apert devido às múltiplas alterações nesses pacientes.

Lesiones dermatológicas del síndrome de Apert: A propósito de un caso clínico / Dermatological Features Associated With Apert Syndrome: Apropos Of A Case

Presentamos una paciente de 26 años de edad con Síndrome de Apert (SA) quien presenta lesiones acneiformes desde hace trece años, caracterizadas por la rebeldía al tratamiento y una extraordinaria tendencia a la recidiva. Como este cuadro es realmente raro, consideramos oportuno realizar una revisión bibliográfica de la patología dermatológica asociada al mismo.

We report a woman 26 years old with Apert Syndrome (AS). She has acneiform lesions from thirteen years ago, characterized by resistence to treatment and a remarkable tendency to recur. As this picture is really weird, we consider it timely to review literature about dermatologic disease associated with it.