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A Craniossinostose Coronal bilateral implica em diminuição do Perímetro Craniano (PC) no eixo ântero-posterior (Braquicefalia) e frequentemente se associa ao aumento do eixo céfalo-caudal (vertical-altura) do crânio (Turricefalia), sendo um dos achados mais comuns nas Síndromes de Crouzon e Apert. Objetivo: Identificar, analisar e sintetizar os métodos de avaliação cognitiva apropriados para o acompanhamento da evolução de pacientes com cranioestenoses sindrômicas, em particular as síndromes de Apert e de Crouzon. Método: Trata-se de uma revisão de escopo. Para a formulação da pergunta norteadora da pesquisa e da estratégia de busca, foi utilizada a estratégia Population [((Apert OR Crouzon) AND (Disease OR Syndrom*))], Concept [((cognit* OR neurobehavioral OR neurocognit* OR neuropsyc*) AND (evaluation OR evaluations OR assessment OR "test" OR tests OR status OR development OR disorder OR disorders OR impairment OR impairments OR impaired OR function OR functions))] e Context (em qualquer contexto). Foram inclusos os artigos escritos em inglês, português e espanhol em qualquer período. A busca foi realizada nas bases de dados: Embase, Scopus, PubMed/MEDLINE e rede BVS Salud. Resultados:Inúmeros testes de avaliação cognitiva validados internacionalmente foram aplicados aos pacientes com Apert e Crouzon, mas não se observou uma padronização (protocolo) seguida pelas várias unidades de assistência. Dos 75 tipos de Testes Cognitivos aplicados houve o predomínio da Escala de Inteligência de Wechsler (e seus subtestes), 50%. Na população avaliada predominou duas faixas etárias: escolares e adolescentes. As crianças com Apert e Crouzon obtiveram escores piores nos transtornos de socialização, atenção e internalização quando comparadas com o grupo normativo, sendo os piores resultados encontrados em Apert. Fatores que interferem no desenvolvimento neuropsicomotor: pressão intracraniana, malformações encefálicas, genética, idade na correção cirúrgica (postergação da primeira cirurgia após um ano de idade associou-se a um quociente de inteligência mais baixo), institucionalização, ambiente familiar, escolaridade dos cuidadores e nível socioeconômico. Considerações finais: os resultados obtidos contribuíram para maior conhecimento do perfil cognitivo dos pacientes com estas síndromes. Somente conhecendo as habilidades e dificuldades neuropsicomotoras, cognitivas e psicossociais dos pacientes com Apert e Crouzon é que as equipes de saúde, da escola e de cuidadores poderão entender melhor a capacidade perceptiva destes no processo de aprendizado e estarão mais aptas em atender as necessidades especiais destes pacientes e poderão ofertar os estímulos mais adequados no momento mais oportuno (AU).

Bilateral Coronal Craniosynostosis implies a decrease in the Cranial Perimeter (CP) in the anteroposterior axis (Brachycephaly) and is frequently associated with an increase in the cephalocaudal (vertical height) axis of the skull (Turrycephaly); being one of the most common findings in Crouzon and Apert Syndromes (Syndromic Craniosynostosis). In this Scope Review study, among the Syndromic Craniosynostosis, Apert and Crouzon Syndromes will be of special interest. Objective: This study aimed to identify, analyze, and synthesize the appropriate cognitive assessment methods for monitoring the evolution of patients with syndromic craniosynostosis, in particular Apert's and Crouzon's syndromes. Method: This is a scope review. In order to formulate the research guiding question and the searching strategy, the Population [((Apert OR Crouzon) AND (Disease OR Syndrom*))], Concept [((cognit* OR neurobehavioral OR neurocognit* OR neuropsyc*) AND (evaluation OR evaluations OR assessment OR "test" OR tests OR status OR development OR disorder OR disorders OR impairment OR impairments OR impaired OR function OR functions))] and Context (in any context) strategy was used. The articles written in English, Portuguese, and Spanish in any period were included. The search was performed in the following databases: Embase, Scopus, National Library of Medicine (PubMed/MEDLINE), and in the BVS Salud network (PAHO, WHO, BIREME, LILACS). Results: many internationally validated cognitive assessment tests were applied to patients with Apert and Crouzon, but no standardization (protocol) was followed. Of the 75 types of Cognitive Tests applied, the Wechsler Intelligence Scale predominated, 50%. In the evaluated population, two age groups predominated: school children and adolescents. Children with Apert and Crouzon had worse scores on disorders of socialization, attention, and internalization when compared to the normative group, with the worst results found in Apert. Factors that interfere with cognitive development: intracranial pressure, brain malformations, genetics, age at surgical correction, institutionalization, family environment, caregiver education, and socioeconomic status. Conclusion: the results contributed to a better understanding of the cognitive profile of patients with these syndromes and only by knowing about the neuropsychomotor, cognitive, and psychosocial skills and difficulties of these patients with Apert and Crouzon that health, school, and caregiver teams will be able to understand the perceptive capacity in the learning process of these patients deeply and will be able to offer the most appropriate stimuli at the most opportune time. Keywords: Apert, Crouzon, Neuropsyc, Tests, Development (AU).

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The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence Síndrome de Saethre-Chotzen: a propósito de un caso Saethre-Chotzen syndrome: a case report of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome. The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

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As craniossinostoses constituem um grupo heterogêneo de síndromes caracterizadas por uma fusão sutural prematura que ocorre isoladamente ou associada a outras anomalias. A retrusão facial é regra nas craniossinostoses faciais, com inversão da oclusão, recuo dos zigomáticos, falta de projeção nasal, desencadeando déficits funcionais como: defeitos na mastigação, má proteção ocular, exotropia e dificuldade respiratória por falta de profundidade da faringe. Postula-se que uma malformação da base do crânio tenha como consequência a fusão prematura das suturas cranianas. O objetivo deste estudo é descrever e analisar através de exames cefalométricos obtidos a partir de tomografias computadorizadas com reconstruções tridimensionais o fenótipo cefalométrico das craniossinostoses sindrômicas e as peculiaridades da caracterização pontos anatômicos referentes a essa patologia. Apresentamos análise cefalométrica de uma série de casos de pacientes com craniossinostose sindrômica caracterizada por S. Crouzon (4 casos), S. Apert (1 caso), e S. Pfeiffer (1 caso). Nossos resultados demostraram que o fenótipo cefalométrico das craniossinostoses sindrômicas apresenta discrepância grave entre os complexos craniomaxilomandibulares associada à restrição do crescimento da base do crânio, exibindo maxila retruída e mandíbula em posição anteriorizada. Quando comparados à norma clínica apresentam retrusão maxilar grave, diminuição da base posterior do crânio, retroposição horizontal da maxila no sentido anteroposterior, retroinclinação do plano palatal e mordida aberta esquelética, e tendência a desenvolver Classe III de Angle. O estudo cefalométrico tridimensional torna-se uma propedêutica recomendada para as craniossinostoses sindrômicas visando intervenções cirúrgicas, terapias ortodônticas e estéticas pois exigem abordagens clínicas precoces que modificam os pontos anatômicos craniofaciais fundamentais para um correto diagnóstico e programa terapêutico..

Craniosynostosis is a heterogeneous group of syndromes characterized by premature suture fusion that occurs alone or associated with other anomalies. Facial retrusion is a rule in facial craniosystosis, with inversion of occlusion, recoil of zygomatics, lack of nasal projection, triggering functional deficits such as: defects in chewing, poor eye protection, exotropia and difficulty breathing due to lack of pharynx depth. It is postulated that a malformation of the base of the skull has as a consequence the premature fusion of cranial sutures. The aim of this study is to describe and analyze through cephalometric examinations obtained from computed tomography scans with three-dimensional reconstructions the cephalometric phenotype of syndromic craniosystosis and the peculiarities of the characterization of anatomical points related to this pathology. We present cephalometric analysis of a series of cases of patients with syndromic craniosynostosis characterized by S. Crouzon (4 cases), S. Apert (1 case), and S. Pfeiffer (1 case). Our results showed that the cephalometric phenotype of the syndromic craniosystosis presents a severe discrepancy between the craniomaxillomandibular complexes associated with the restriction of the growth of the skull base, presenting a retrudible maxilla and a mandible in an anteriorposition. When compared to the clinical norm, they present severe maxillary retrusion, decreased posterior base of the skull, horizontal retroposition of the maxilla in the anteroposterior direction, retroinclination of the palatal plane and skeletal open bite, and tendency to develop Angle Class III. Three-dimensional cephalometric study becomes a recommended propaedeutic for syndromic craniosynostosis aimed at surgical interventions, orthodontic and aesthetic therapies because they require early clinical approaches that modify the anatomical craniofacial points fundamental to a correct diagnosis and therapeutic program..

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Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Association of Pfeiffer syndrome (PS) types 2 and 3 with "prune belly" anomaly has been reported in two non-related patients, one PS type 2 and one PS type 3. Case Report: we report the second case of PS type 3 in a female neonate with "prune belly" anomaly and prenatal exposure to Parvovirus B19. Conclusions: We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3.

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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.

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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.

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A Síndrome de Apert é uma doença congênita rara caracterizada por fusão prematura da sutura coronal e estenose (disfunção) craniofacial grave, mas também exibe muitos outros defeitos cardíacos e pulmonares, bem como malformações neurais que podem levar a problemas cognitivos, na maior parte dos casos a anomalia é resultante de uma mutação paternal, afetando 1 a cada 160.000 nascidos vivos, com elevada incidência em asiáticos. A literatura escreve que essa síndrome é consequência de mutações do gene do fator de crescimento receptor 2 (FGFR2), abrangendo dois aminoácidos adjacentes, que ocorrem durante o processo de formação. Concluiu-se que o paciente com esse tipo de comprometimento requer acompanhamento multidisciplinar de longo prazo pela maioria dos danos não serem aparentes nas fases iniciais de vida, pelas patologias dentoesqueléticas, necessitando de tratamento odontológico periodicamente (AU).

Apert Syndrome is a rare congenital disease characterized by premature fusion of the coronal suture and severe craniofacial stenosis (dysfunction), but also exhibits many other cardiac and pulmonary defects as well as neural malformations that can lead to cognitive problems, in most cases anomaly is the result of a paternal mutation, affecting 1 in 160,000 live births, with high incidence in Asian people. Literature writes that this syndrome is a consequence of mutations of the growth factor receptor 2 (FGFR2) gene encompassing two adjacent amino acids that occur during the formation process. It is concluded that the patient with this type of impairment requires long-term multidisciplinary follow-up because most of the damages are not apparent in the early stages of life due to dentoskeletal pathologies requiring dental treatment periodically (AU).

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OBJECTIVES: The objective is to describe a new surgical procedure developed in the San Jose Pediatric University Hospital for the management of syndromic synostosis of the metopic suture in a patient clinically diagnosed with Saethre-Chotzen syndrome. METHODS: The diagnosis of Saethre-Chotzen syndrome, bilateral coronal sutures, and metopic suture synostoses was made through photographic, anthropometric, exophthalmometric, and computed tomography analysis. The keel-like frontal bone deformity was corrected following resection using a fusiform osteotomy, remodelling was obtained by milling the edges, and the bony fragments were repositioned and fixed on the posterior wall of the frontal bone. Additionally, a fronto-orbital advancement with a self-stabilizing bar was performed. RESULTS: The 1-year postoperative results showed improvement in the position of the fronto-orbital bar, adequate cranial expansion, satisfactory correction of the upper facial third alteration, and correction of the keel-like deformity. CONCLUSIONS: The surgical approach has not previously been described in the literature and offers an alternative management for syndromic craniosyntostosis of the metopic suture, avoiding skull irregularities.

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Apert and Crouzon are the most common craniosynostosis syndromes associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. We conducted a study to examine the molecular biology, brain abnormalities, and cognitive development of individuals with these syndromes. A retrospective longitudinal review of 14 patients with Apert and Crouzon syndromes seen at the outpatient Craniofacial Surgery Hospital for Rehabilitation of Craniofacial Anomalies in Brazil from January 1999 through August 2010 was performed. Patients between 11 and 36 years of age (mean 18.29 ± 5.80), received cognitive evaluations, cerebral magnetic resonance imaging, and molecular DNA analyses. Eight patients with Apert syndrome (AS) had full scale intelligence quotients (FSIQs) that ranged from 47 to 108 (mean 76.9 ± 20.2), and structural brain abnormalities were identified in five of eight patients. Six patients presented with a gain-of-function mutation (p.Ser252Trp) in FGFR2 and FSIQs in those patients ranged from 47 to78 (mean 67.2 ± 10.7). One patient with a gain-of-function mutation (p.Pro253Arg) had a FSIQ of 108 and another patient with an atypical splice mutation (940-2A →G) had a FSIQ of 104. Six patients with Crouzon syndrome had with mutations in exons IIIa and IIIc of FGFR2 and their FSIQs ranged from 82 to 102 (mean 93.5 ± 6.7). These reveal that molecular aspects are another factor that can be considered in studies of global and cognitive development of patients with Apert and Crouzon syndrome (CS). © 2016 Wiley Periodicals, Inc.

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Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits, broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.

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A síndrome de Apert, também conhecida como acrocefalossindactilia é uma rara condição genética caracterizada pela fusão prematura das suturas cranianas (craniossinostose), hipoplasia do terço médio da face e sindactilia das mãos e pés. O presente trabalho teve como objetivo demonstrar as principais características bucais e craniofaciais da síndrome de Apert, através de um relato de caso. Paciente do sexo masculino, 4 anos de idade, leucoderma, com diagnóstico médico de síndrome de Apert, foi encaminhado para a Clínica de Especialização em Odontologia para Pacientes com Necessidades Especiais do Centro de Pesquisas Odontológicas São Leopoldo Mandic, em Campinas, São Paulo, Brasil. No exame físico, notou-se a presença de sindactilia dos dedos dos pés e das mãos, alterações craniofaciais, hipoplasia da maxila, palato em forma de V invertido com pseudofenda na linha média, tumefações nos processos palatinos e ausência dos incisivos inferiores. Conclui-se que as características bucais e craniofaciais do paciente estão de acordo com as características relatadas na literatura para a síndrome, devendo o cirurgião-dentista estar apto a identificá-las.

The Apert syndrome, also known as acrocephalosyndactyly, is a rare genetic condition characterized by the premature fusion of the cranial sutures (craniosynostosis), hypoplasy of the middle third of the face and syndactyly of the hands and feet. This study aimed to demonstrate the main oral and craniofacial characteristics of the Apert syndrome through a case report. A 4-year-old leucoderma male patient, with a diagnosis of Apert syndrome, was referred to the Clinic of Dentistry Specialization for Special Needs Patients at the Dental Research Center São Leopoldo Mandic, in Campinas, São Paulo, Brazil. On physical examination there have been noticed the presence of syndactyly of the toes and hands, craniofacial abnormalities, hypoplasy of the maxilla, inverted V shaped of the palate, with pseudocleft midline, swellings in the palatine processes and absence of the lower incisors. The results indicated that the oral craniofacial characteristics of the patient are in accordance with those reported in the literature for the Apert syndrome, and a dentist is required to identify them.

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BACKGROUND: Crouzon and Apert syndromes are the most common syndromic forms of craniofacial dysostosis. Apert syndrome has a broad clinical spectrum, including complex craniofacial involvement, as well as limiting deformities of the hands, feet, and other joints that require multiple surgical procedures when compared with Crouzon syndrome, which is generally less severe. The authors hypothesized that the quality of life of Apert syndrome patients is inferior to that of Crouzon syndrome patients. METHODS: The quality of life of Apert (n = 8) and Crouzon (n = 12) syndrome patients was assessed using the World Health Organization Quality of Life-100 questionnaire. The Mann-Whitney test was used to compare the quality-of-life scores between Apert and Crouzon patients. Values were considered significant for a confidence interval of 95 percent (p < 0.05). RESULTS: Apert patients showed an overall higher (score > 60 percent) quality of life in most World Health Organization Quality of Life-100 facets (68 percent) and domains (83.33 percent), with significance (p < 0.05) in three facets (energy and fatigue, mobility, and environment in the home), compared with Crouzon patients. CONCLUSION: Contrary to the authors' initial hypothesis, both the highest-functioning Apert patients and the Crouzon patients presented a satisfactory quality of life, demonstrating that these syndromic patients had acquired the necessary repertoire to manage the adverse daily situations of their lives.

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The authors describe on a Brazilian girl with coronal synostosis, facial asymmetry, ptosis, brachydactyly, significant learning difficulties, recurrent scalp infections with marked hair loss, and elevated serum immunoglobulin E. Standard lymphocyte karyotype showed a small additional segment in 7p21[46,XX,add(7)(p21)]. Deletion of the TWIST1 gene, detected by Multiplex Ligation Probe-dependent Amplification (MPLA) and array-CGH, was consistent with phenotype of Saethre-Chotzen syndrome. Array CGH also showed deletion of four other genes at 7p21.1 (SNX13, PRPS1L1, HD9C9, and FERD3L) and the deletion of six genes (CACNA2D2, C3orf18, HEMK1, CISH, MAPKAPK3, and DOCK3) at 3p21.31. Our case reinforces FERD3L as candidate gene for intellectual disability and suggested that genes located in 3p21.3 can be related to hyper IgE phenotype.

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Introdução: A síndrome de Saethre-Chotzen é um distúrbio raro de herança autossômica dominante causada por mutações no gene TWIST, localizado no lócus 7p21; os pacientes apresentam defeitos na cabeça (plagiocefalia e assimetría facial) e na parte distal das extremidades, dedos encurtados e ligados pela persistência de uma membrana entre eles (sindactilia). Objetivo: Apresentar um relato de caso da síndrome de Saethre-Chotzen, discutindo as características diagnósticas que diferenciam essa síndrome dos outros tipos de craniossinostoses e o diagnóstico diferencial. Descrição: Estudante de 11 anos apresentando os seguintes sinais clínicos: plagiocefalia decorrente de craniossinostose, acrobraquicefalia, assimetria facial e hemimelia, com ausência da porção distal do antebraço direito. Comentários: Apresentamos um caso ilustrativo da síndrome de Saethre-Chotzen, que constitui a mais frequente das doenças com craniossinostoses e descrevemos as importantes alterações faciais dismórficas da síndrome.

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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.

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Durante el abordaje terapéutico odontológico de los pacientes parcialmente edéntulos, resulta indispensable la obtención de una adecuada estabilidad esquelética, una buena dimensión vertical y una adecuada rehabilitación protésica; a tal fin, es necesaria una programación terapéutica así como la cooperación de las distintas especialidades odontológicas: prótesis, ortodoncia y cirugía. El presente artículo resume la programación y principales fases terapéuticas durante el abordaje de una paciente parcialmente edéntula, diagnosticada con Síndrome de Apert, quien fue sometida a un tratamiento ortodóntico-quirúrgico, además de realizársele una rehabilitación protésica con adecuada dimensión vertical, logrando un equilibrio neuromuscular y una estabilidad oclusal y esqueletal a largo plazo

A case of Apert´s Syndrome is reported as a contribution of better understanding of this disease. A literature review is done concluding that this disease has an important genetic component and belongs to those ones that present craneofacial deformities. The most important characteristics of this syndrome are the associated craneofacial and limb deformities. It´s treatment requires a team aproach with participation of diverses specialities of dentists, in order to give the patient a better treatment from the functional, esthetic and social standpoint

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Tomando como base um caso clínico da Síndrome de Apert, esta pesquisa tem como objetivo apresentar a importância da assistência ao paciente com esta deficiência, enfatizando o tratamento odontológico. Essa síndrome é uma acrocefalossindactilia tipo I e tem como principais características a craniosinostose, hipoplasia do terço médio da face e sindactilia das mãos e dos pés. No exame intrabucal foi observado presença de dentes hígidos, mordida aberta anterior, apinhamento dental, relação molar Classe III de Angle, palato ogival, fenda palatina e úvula bífida. Sua ocorrência é estimada em 1 a cada 160.000 nascidos vivos e é considerada uma das mais importantes síndromes craniofaciais, sendo, portanto, uma patologia importante para a Odontologia

Assuntos