Abstract Objective The current study delves into the accessibility of genetic evaluations for individuals with orofacial clefts (OC), comparing data between genetics and treatment centers across Brazil. Methods This cross-sectional retrospective study analyzed primary data from 1463 OC individuals registered in the Brazilian Database of Craniofacial Anomalies (BDCA) between 2008 and 2018 without age or sex selection. Diagnostic exam results stemming from research projects until 2023 were considered. Results Of the 1463 individuals with typical OC, 987 were non-syndromic, 462 were syndromic (SOC), 10 presented atypical forms, and three were not specified OC cases. The average age for accessing laboratory diagnosis was 8.5 years among SOC individuals. Notably, more SOC cases were registered in genetics centers than treatment and rehabilitation centers (37.1 % vs. 29 %, p = 0.0015). Those originating from genetics centers accessed diagnosis at an average age of 7.3 years, while those from treatment and rehabilitation centers experienced delays with an average age of 10.7 years (p = 0.0581). Conclusions Irrespective of the center of origin, the data highlight delayed diagnosis and challenges in accessing genetic tests for the syndromic group. Given the widespread reliance on the public health system by most of the Brazilian population, disseminating this data can significantly contribute to shaping an informed perspective on healthcare access. These insights can improve public policies tailored to the unique needs of individuals with OC. , (OC) Brazil crosssectional cross sectional 146 BDCA (BDCA 200 201 selection 202 considered 98 nonsyndromic, nonsyndromic non syndromic, non-syndromic 46 SOC, (SOC) 1 forms 85 8 5 8. Notably 37.1 371 37 (37. vs 2 0.0015. 00015 0.0015 . 0 0015 0.0015) 73 7 3 7. 107 10. 0.0581. 00581 0.0581 0581 0.0581) origin group population access (OC 14 20 9 4 (SOC 37. (37 0001 0.001 001 0058 0.058 058 (3 000 0.00 00 005 0.05 05 ( 0.0 0.

Abstract Characterization of specific birth defects is essential for conducting scientific investigations, care and therapeutic strategies. This article describes demographic, clinical and genetic aspects, risk factors and access to treatment of Brazilian patients with orofacial clefts registered in a specialized collaborative center of the Brazilian Database on Craniofacial Anomalies (BDCA). We interviewed 70 individuals with typical orofacial clefts using a standard instrument from the database and subjected them to genetic testing. The patients were grouped as syndromic and non-syndromic. The majority of individuals were of lower middle class, native ancestry and syndromic. There was a significant difference in the type of clefts regarding gender. There was no significant difference between bilateral and unilateral, between the side affected, right and left, or familial recurrence related to type of oral cleft. The risk factor familial recurrence was significantly higher among non-syndromic cases. Etiological factors were identified or suggested in 62.5% of the syndromic cases. There was a delay in diagnosis and in access to treatment in most cases. We concluded that gender, native ancestry and low family income represent risk factors. Furthermore, the distribution by cleft types and gender is similar to previous studies. The results can guide scientific investigations and care policies. strategies demographic aspects BDCA. BDCA . (BDCA) 7 testing nonsyndromic. nonsyndromic non class unilateral affected left cases 625 62 5 62.5 Furthermore studies policies (BDCA 6 62.

Abstract Runs of homozygosity (ROH) in the human genome may be clinically relevant. The aim of this study was to report the frequency of increased ROH of the autosomal genome in individuals with neurodevelopmental delay/intellectual disability and/or multiple congenital anomalies, and to compare these data with a control group. Data consisted of calls of homozygosity from 265 patients and 289 controls. In total, 7.2% (19/265) of the patients showed multiple ROH exceeding 1% of autosomal genome, compared to 1.4% (4/289) in the control group (p=0.0006). Homozygosity ranged from 1.38% to 22.12% among patients, and from 1.53 to 2.40% in the control group. In turn, 1.9% (5/265) of patients presented ROH ≥10Mb in a single chromosome, compared to 0.3% (1/289) of individuals from the control group (p=0.0801). By excluding cases with reported consanguineous parents (15/24), the frequency of increased ROH was 3.4% (9/250) among patients and 1.7% (5/289) in the control group, considering multiple ROH exceeding 1% of the autosome genome and ROH ≥10Mb in a single chromosome together, although not statistically significant (p=0.1873). These results reinforce the importance of investigating ROH, which with complementary diagnostic tests can improve the diagnostic yield for patients with such conditions.

Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling.

Resumo Introdução: As fendas orofaciais não sindrômicas possuem uma etiologia complexa devido à contribuição de fatores de risco genéticos e ambientais, assim como a interação entre eles. Dentre os mais de 15loci de susceptibilidade para as fendas orofaciais não sindrômicas com considerável suporte estatístico e biológico, o IRF6 é o gene mais validado pela maioria dos estudos. Apesar disso, em populações geneticamente heterogêneas como a brasileira, a confirmação da associação entre as fendas orofaciais não sindrômicas e as variantes mais comuns do IRF6 ainda não é um fato consolidado e outras variantes não tão conhecidas IRF6 são pouco investigadas. Objetivo: O objetivo deste estudo foi investigar a associação de variados polimorfismos do IRF6 com o desenvolvimento das fendas orofaciais não sindrômicas em uma população do nordeste do Brasil. Método: Amostras de sangue de 186 pacientes com fendas orofaciais não sindrômicas e 182 controles do estado do Rio Grande do Norte, Brasil, foram obtidas para analisar os polimorfismos do IRF6 (rs2235371, rs642961, rs2236907, rs861019 e rs1044516) por reação em cadeia da polimerase em tempo real. Os pacientes com fendas orofaciais não sindrômicas foram classificados em fenda labiopalatina, fenda palatina isolada e fenda labial isolada. Resultados: As frequências genotípica e alélica do polimorfismo de único nucleotídeo rs2235371 no IRF6 mostraram-se significativamente diferentes em pacientes com fenda palatina isolada quando comparadas às dos controles, enquanto que nenhuma associação foi encontrada entre rs642961, rs2236907, rs861019 e rs1044516 e risco para o desenvolvimento das fendas orofaciais não sindrômicas. Conclusão: A associação encontrada entre rs2235371 e fenda palatina isolada deve ser interpretada com cautela devido ao baixo número de indivíduos investigados, sendo necessários mais estudos com um tamanho amostral maior para confirmar essa associação. Além disso, não foram encontradas associações significativas entre os demais polimorfismos do IRF6 rs642961, rs2236907, rs861019 e rs1044516 e a susceptibilidade às fendas orofaciais não sindrômicas.

Abstract Introduction: Non-syndromic orofacial clefts have a complex etiology due to the contribution from both genetic and environmental risk factors, as well as the interaction between them. Among the more than 15 susceptibility loci for non-syndromic orofacial clefts with considerable statistical and biological support, the IRF6 is the most validated gene by the majority of studies. Nonetheless, in genetically heterogeneous populations such as Brazilian, the confirmation of association between non-syndromic orofacial clefts and IRF6 common variants is not a consolidated fact and unrecognized IRF6 variants are poorly investigated. Objective: The aim of this study was to investigate the association of IRF6 polymorphisms with non-syndromic orofacial clefts development in a population from northeast Brazil. Methods: Blood samples of 186 non-syndromic orofacial clefts patients and 182 controls from Rio Grande do Norte, Brazil, were obtained to analyze IRF6 polymorphisms (rs2235371, rs642961, rs2236907, rs861019, and rs1044516) by real-time polymerase chain reaction. Non-syndromic orofacial clefts patients were classified in cleft lip and palate, cleft palate only and cleft lip only groups. Results: The genotype and allele frequencies of single nucleotide polymorphism rs2235371 in IRF6 showed significant differences in patients with cleft palate when compared to the controls, whereas no association was shown between rs642961, rs2236907, rs861019, and rs1044516 and non-syndromic orofacial clefts. Conclusion: The association found between rs2235371 and isolated cleft palate should be interpreted with caution due to the low number of individuals investigated, and more studies with larger sample size are needed to confirm these association. In addition, there is a lack of association of the rs642961, rs2236907 and rs861019 polymorphisms with non-syndromic orofacial clefts susceptibility.

Resumo Objetivo: Identificar desequilíbrios genômicos patogênicos em pacientes que apresentam cardiopatias congênitas (CC) e anomalias extracardíacas e exclusão da síndrome de deleção 22q11.2 (SD22q11.2). Métodos: Foram avaliados por microarray cromossômico (CMA) 78 pacientes negativos para a deleção 22q11.2, previamente testados por hibridação in situ com fluorescência (FISH) e/ou amplificação de múltiplas sondas dependentes de ligação (MLPA). Resultados: Foram identificadas variações do número de cópias de DNA (CNVs) clinicamente significativas (≥ 300 kb) em 10% (8/78) dos casos, além de CNVs potencialmente relevantes em dois casos (duplicação de 993 kb em 15q21.1 e duplicação de 706 kb em 2p22.3). Genes envolvidos como IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1 e LTPB1 são conhecidos por atuar no desenvolvimento cardíaco e podem ser genes candidatos a CC. Conclusão: Esses dados mostram que pacientes que apresentam CC, com anomalias extracardíacas e exclusão da SD22q11.2, devem ser investigados por CMA. Ainda, este estudo enfatiza a possível função das CNVs nas CC.

Abstract Objective: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). Methods: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Results: Clinically significant copy number variations (CNVs ≥300 kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993 kb duplication in 15q21.1 and 706 kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. Conclusion: These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD.

Objetivo: Verificar se a hibridização in situ por fluorescência (FISH) em células de mucosa oral poderia ser empregada para detectar criptomosaicismo com linhagem 45,X em pacientes 46,XY. Sujeitos e métodos: Amostra de 19 jovens saudáveis 46,XY e cinco pacientes com distúrbios da diferenciação do sexo (DDS), quatro 45,X/46,XY e um 46,XY. FISH com sondas específicas para X e Y em núcleos interfásicos de linfócitos e mucosa oral para investigar a proporção de núcleos contendo apenas o sinal do cromossomo X. Resultados: A frequência de núcleos contendo apenas o sinal do X nos dois tecidos dos homens saudáveis não diferiu (p = 0,69). Em todos os pacientes com DDS essa frequência foi significativamente maior, e também não houve diferença entre os dois tecidos (p = 0,38). Conclusões: A investigação de mosaicismo com linhagem 45,X em pacientes com DDS 46,XY ou esterilidade pode ser feita por FISH diretamente em células de mucosa oral.

Objective: To verify whether fluorescence in situ hybridization (FISH) of cells from the buccal epithelium could be employed to detect cryptomosaicism with a 45,X lineage in 46,XY patients. Subjects and methods: Samples of nineteen 46,XY healthy young men and five patients with disorders of sex development (DSD), four 45,X/46,XY and one 46,XY were used. FISH analysis with X and Y specific probes on interphase nuclei from blood lymphocytes and buccal epithelium were analyzed to investigate the proportion of nuclei containing only the signal of the X chromosome. Results: The frequency of nuclei containing only the X signal in the two tissues of healthy men did not differ (p = 0.69). In all patients with DSD this frequency was significantly higher, and there was no difference between the two tissues (p = 0.38), either. Conclusions: Investigation of mosaicism with a 45,X cell line in patients with 46,XY DSD or sterility can be done by FISH directly using cells from the buccal epithelium.

This article presents general aspects of risk factors and particularities of the management of individuals with oral clefts (OCs). A practical manual of prevention and management of this congenital defect was prepared based on a review of the literature and using data from Brazilian multicenter studies. Since OCs require efforts from all levels of healthcare, the data herein presented permits appropriate follow-up for affected individuals and their families. Also, the recognition of risk factors is crucial for planning and implementing preventive measures at the individual and population levels.

INTRODUÇÃO: As fendas orofaciais estão entre os mais prevalentes defeitos congênitos em todo o mundo. Atenção especializada e vigilância de necessidades básicas de saúde são críticas no cuidado aos indivíduos. OBJETIVO: Foi descrever a experiência e o interesse de profissionais da Estratégia Saúde da Família no acompanhamento de indivíduos com fendas orofaciais. MÉTODOS: Coorte observacional com 104 profissionais de Maceió (AL) e Campinas (SP). Características demográficas, acadêmicas e profissionais, bem como a experiência didática e o desejo por educação continuada, foram colhidas por meio de questionário. RESULTADOS: Setenta e quatro profissionais atuavam em Maceió e 30 em Campinas. O gênero feminino e a baixa qualificação acadêmica foram predominantes. Médicos e enfermeiros prevaleceram sobre dentistas, e 78 (75%) participantes tinham experiência clínica com fendas. O uso de protocolos foi mencionado por 3/104 (2,9%), a oferta de informações sobre fendas por 58/104 (56%) e o encaminhamento para unidades especializadas da Rede de Referência por 7/104 (6,7%). Cerca de 50% dos participantes referiram experiência didática e 94%, desejo por educação continuada CONCLUSÃO: Os resultados corroboram a literatura e reforçam a necessidade de melhorar a capacitação de profissionais nesta área. Para tanto, são apresentadas estratégias para promover educação e reforçar laços entre a atenção básica e equipes especializadas.

INTRODUCTION: Orofacial clefts are among the most prevalent birth defects worldwide. Specialized treatment and surveillance of basic health needs are critical. Few studies have investigated primary care practitioners' experience in caring for individuals with clefts. OBJECTIVE: It was to describe experience and current interest of family care practitioners on the management of individuals with clefts. METHODS: Observational cohort of 104 practitioners from Maceió (AL) e Campinas (SP). Demographic, academic and professional characteristics, didactic experience and desire in continuing education on clefts were assessed using a questionnaire RESULTS:Seventy-four practitioners were located in Maceió and 30 in Campinas. Female gender and low academic qualification were predominant. Physicians and nurses prevailed over dentists, 78 (75%) participants had clinical experience with clefts. Use of protocols was mentioned by 3/104 (2.9%), provision of information on clefts by 58/104 (56%) and referrals to the Brazilian Reference Network by 7/104 (6.7%). Almost 50% reported didactic experience and 94%, desire on continuing education in this field CONCLUSION: Results corroborate the literature and reinforce the need of improving family care practitioners' skills to manage individuals with clefts. Education and strengthen ties between primary level of the health system and specialized teams must be focused. Some strategies are presented in this regard.

OBJETIVO: Embora a síndrome de Williams-Beuren seja bem conhecida, há apenas um estudo descrevendo a composição corporal nesses pacientes. O objetivo foi caracterizar o estado nutricional de brasileiros com síndrome de Williams. MÉTODOS: Utilizou-se um estudo transversal com a avaliação de dados clínicos e nutricionais de 17 pacientes. Foram calculados os escores-z do peso, estatura, índice de massa corpórea, dobras cutâneas, circunferência do braço e áreas muscular e adiposa do braço. Para verificar diferenças, foi utilizado o teste de Wilcoxon, sendo considerado significativo p < 0,05. RESULTADOS: Os valores médios dos escores-z foram: -1,14 ± 1,00 (p = 0,004) para estatura, -0,67 ± 1,19 (p = 0,0443) para peso, -0,94 ± 1,14 (p = 0,0222) para a circunferência do braço, -0,59 ± 0,63 (p = 0,0042) para dobra cutânea do tríceps e -0,67 ± 0,67 (p = 0,0061) para a área gordurosa do braço. Foi observada desnutrição pregressa em quatro pacientes e crônica, em dois. CONCLUSÃO: A baixa estatura, semelhante à descrita na população alemã, parece ser intrínseca à síndrome. Esse foi o primeiro estudo que avaliou a composição corporal, utilizando as dobras cutâneas, e detectou anormalidades nas reservas de gordura. O método aqui utilizado é simples, rápido e de baixo custo, facilitando estudos similares em outras populações. Isso poderia melhor caracterizar esses aspectos na síndrome de Williams. Morbidade relacionada a essa doença e informações para investigação e seguimento clinico são discutidas.

OBJECTIVE:Although considered a well-known condition, there is only one study describing the body composition among individuals with Williams-Beuren syndrome. The aim was to characterize the nutritional status in Brazilian individuals with this condition. METHODS: Cross-sectional study was designed to evaluate clinical and nutritional data of 17 Brazilian patients. Z-scores for height, weight, body mass index, triceps and subscapular skinfold thickness, arm circumference, arm muscle area, arm fat area were calculated. Wilcoxon's test was used to investigate differences between the z-scores of the anthropometrical measures and zero. RESULTS: Four children were considered stunted and two severely malnourished. The z-score mean value for height was -1.14 ± 1.00 (p-value = 0.004), for weight, -0.67 ± 1.19 (p-value = 0.0443), for arm circumference, -0.94 ± 1.14 (p-value = 0.0222), for triceps skinfold thickness, -0.59 ± 0.63 (p-value = 0.0042) and for arm fat area -0.67 ± 0.67 (p-value = 0.0061). CONCLUSION: Short stature seen in this series confirms a previous study describing this feature in a German population, which would suggest it as an intrinsic feature in Williams-Beuren syndrome. In addition, skinfold thickness measures have not been previously performed in this syndrome and detected abnormalities in fat stores in this sample. Considering this method a fast and low-cost way to evaluate body composition, similar studies could be performed in other populations in order to better characterize this issue. Morbidity related with this genetics condition and information for clinical investigation and clinical follow-up are also discussed.

OBJETIVO: Determinar a época do diagnóstico de fendas orofaciais típicas em diferentes regiões brasileiras e sua influência na idade da correção cirúrgica. MÉTODO: Estudo prospectivo, descritivo e transversal realizado em centros médicos do Sudeste, Sul e Nordeste do Brasil. Fonoaudiólogos e geneticistas treinados realizaram entrevista, previamente validada, com pais de crianças afetadas. Utilizaram-se os programas Epi-Info e SPSS. Adotou-se nível de significância de 5% (p < 0,05). RESULTADOS: A amostra contou com 215 entrevistas para análise: 21,9% (47) aplicadas no Sudeste, 51,1% (110) no Sul e 27% (58) no Nordeste. A renda mensal no Sudeste foi maior (p < 0,05). A fenda labiopalatal foi encontrada em 61,4% (132) dos casos, a palatal, em 20,9% (45), e a labial, em 17,7% (38). Em 75,3% (162) dos casos, o diagnóstico ocorreu na maternidade, em 14% (30), no pré-natal e, em 10,2% (22), após a alta da maternidade. O Sudeste apresentou maior frequência de diagnóstico pré-natal (27,7%), possivelmente relacionada ao maior poder aquisitivo e a oportunidades de investigação. Dos diagnósticos em maternidades, 74,4% ocorreram no Nordeste. Entretanto, não houve diferença na comparação entre época de diagnóstico, região e idade da primeira cirurgia. CONCLUSÃO: Considerando que o diagnóstico é mais frequente em maternidades, sugere-se o treinamento das equipes de saúde desses locais, visando efetiva coordenação do atendimento inicial. Apesar da época do diagnóstico não influenciar a idade das cirurgias, ela favorece o planejamento dos cuidados neonatais e terapêuticos dos afetados.

OBJECTIVE: To determine the time of diagnosis of typical orofacial clefts in different Brazilian regions and its influence on age at surgical correction. METHOD: This was a prospective, descriptive, cross-sectional study conducted in medical centers in the Southeast, South, and Northeast of Brazil. Trained speech therapists and geneticists interviewed the parents of affected children using a previously validated questionnaire. Epi-Info and SPSS were used for data analysis. Significance level was set at 5% (p < 0.05). RESULTS: The sample consisted of 215 interviews conducted in the following regions: 21.9% (47) in the Southeast, 51.1% (110) in the South, and 27% (58) in the Northeast. Monthly family income was higher in the Southeast (p < 0.05). Cleft lip and palate were found in 61.4% (132) of cases, cleft palate in 20.9% (45), and cleft lip in 17.7% (38). Diagnosis occurred in the maternity ward in 75.3% (162) of cases, during the prenatal period in 14% (30), and after hospital discharge in 10.2% (22). The Southeast had a higher frequency of prenatal diagnosis (27.7%), possibly related to greater purchasing power in this region and greater availability of prenatal investigation. Of all cases diagnosed in the maternity ward, 74.4% occurred in the Northeast. However, no significant difference was found when comparing time of diagnosis, region, and age at first surgery. CONCLUSION: Considering that diagnosis is more common in the maternity ward, local health care teams should be trained in order to effectively improve the initial care of these patients. Although time of diagnosis did not affect age at surgery, it favors the planning of neonatal care and treatment of affected infants.

Objetivando contribuir com o delineamento clínico de defeitos de linha média facial com hipertelorismo (DLMFH) e com o diagnóstico etiológico das formas isoladas, foram avaliados 31 indivíduos com DLMFH sem condições clínicas definidas. O Grupo A constituiu-se de pacientes examinados pessoalmente e o Grupo B, inicialmente, por outro geneticista. Entre os 14 pacientes do Grupo A, detectou-se 7 novos quadros de anomalias múltiplas (AM). No Grupo B, 5 dos 17 pacientes exibiram um quadro clínico único e peculiar. Nos casos de DLMFH isolados, detectou-se associação com anomalias de ossos de crânio e face (13/14), otorrinolaringológicas (11/16), de sistema nervoso central (9/16), oculares (6/7), e audiológicas (3/16); houve antecedentes gestacionais relevantes em 1/3. Existem evidências de envolvimento de fatores ambientais em parte dos casos de formas isoladas de DLMFH, devendo-se atentar para a possibilidade de um quadro distinto de AM. Todas as investigações realizadas são úteis para avaliação e seguimento clínico.

In order to contribute to clinical delineation of midline facial defects with hypertelorism (MFDH) and to etiologic diagnosis of the isolated form, 31 patients with MFDH unaffected by known syndromic associations were evaluated. Group A included patients personally examined by the authors, while Group B included those previously evaluated by other geneticists. Among the 14 patients from Group A, there were 7 with distinct pictures of multiple congenital anomalies. In Group B, 5 of the 17 patients also exhibited a distinct pattern of defects. Among isolated MFDH, there was association with anomalies of the skull and facial bones (13/14), otorhinologic (11/16), central nervous system (9/16), and ocular (6/7), and audiologic (3/16); 1/3 of the cases had a relevant gestational intercurrences. Isolated FNM may have involvement of environmental components in some cases; the possibility of a syndromic picture should be extensive investigated. Follow-up of such patients must include the examinations herein performed.

Este estudo objetivou descrever e comparar as anomalias estruturais do sistema nervoso central (SNC) detectadas por meio de ressonância magnética (RM) e tomografia computadorizada (TC) de crânio em indivíduos com defeitos de linha média facial com hipertelorismo (DLMFH) isolados ou associados a anomalias congênitas múltiplas (ACM). O protocolo de investigação incluiu exame dismorfológico, RX de crânio e face, CT e RM de crânio. Foram estudados 24 indivíduos, sendo que 12 apresentavam a forma isolada (Grupo I) e os demais, DLMFH com ACM de etiologia não esclarecida (Grupo II). Não houve diferença entre os dois grupos e os resultados foram agrupados. Além de várias anomalias de SNC já descritas, a RM foi útil para detecção de erros de migração neuronal. Os dados sugerem que as alterações estruturais de SNC e os DLMFH têm relação embriológica, o que deve ser levado em conta durante o seguimento clínico.

The aim of this study were to describe and to compare structural central nervous system (CNS) anomalies detected by magnetic resonance image (MRI) and computed tomography (CT) in individuals affected by midline facial defects with hypertelorism (MFDH) isolated or associated with multiple congenital anomalies (MCA). The investigation protocol included dysmorphological examination, skull and facial X-rays, brain CT and/or MRI. We studied 24 individuals, 12 of them had an isolated form (Group I) and the others, MCA with unknown etiology (Group II). There was no significative difference between Group I and II and the results are presented in set. In addition to the several CNS anomalies previously described, MRI (n=18) was useful for detection of neuronal migration errors. These data suggested that structural CNS anomalies and MFDH seem to have an intrinsic embryological relationship, which should be taken in account during the clinical follow-up.

TEMA: aspectos sobre o desenvolvimento de linguagem oral em craniossinostoses sindrômicas. As craniossinostoses (fusão precoce das suturas cranianas) apresentam incidência em torno de 0,4 a 1/1.000 nativivos. Estas podem ocorrer devido a fatores ambientais ou genéticos. Com relação à forma de apresentação, estas podem ocorrer de maneira isolada ou associada a outros defeitos congênitos. Neste último grupo, destacam-se as acrocefalossindactilias, condições geneticamente determinadas, que apresentam similaridade fenotípica, sendo estas as síndromes de Saethre-Chotzen, Apert, Crouzon e Pfeiffer. Diante destas condições complexas que envolvem o arcabouço craniofacial, é possível encontrar interferências anatômicas e funcionais que determinem atrasos e/ou desvios de linguagem. OBJETIVO: revisar a literatura acerca dos aspectos fonoaudiológicos relacionados ao desenvolvimento normal da linguagem oral e descrever as principais características associadas a ela apresentadas por crianças com síndromes de Apert, Crouzon, Pfeiffer e Saethre-Chotzen. Foi realizada revisão sistemática de estudos sobre as craniossinostoses sindrômicas e dados referentes a linguagem oral nestes casos. Para isso, utilizou-se pesquisa na base de dados Medline e Lilacs, assim como outras publicações importantes para a conclusão do artigo. CONCLUSÃO: diversas manifestações relacionadas à audição e linguagem podem estar presentes em craniossinostoses sindrômicas. Destacam-se as alterações do sistema de condução do som, levando à perda auditiva, o que conseqüentemente prejudica a aquisição e desenvolvimento pleno da linguagem. Deste modo, recomenda-se o diagnóstico e tratamento fonoaudiológico adequados e precoces, eliminando ou minimizando os prejuízos para a aquisição e desenvolvimento da linguagem oral.

BACKGROUND: aspects of language development in craniosynostosis. Craniosynostosis (premature fusion of the cranial sutures) has an incidence of 0.4 to 1/1.000 newborns. Etiology for this congenital anomaly includes environmental and genetic factors. Regarding the form of presentation, it can occur in its isolated form or associated to other congenital anomalies. For this last group, acrocephalosyndactilies are observed. These are genetically determined conditions which present phenotypic similarity, including the following syndromes: Saethre-Chotzen, Apert, Crouzon e Pfeiffer. As all of these conditions affect the craniofacial development, it is possible to find anatomic and functional interferences which determine language delays and/or deficits. AIM: to revise the literature concerning aspects related to normal verbal language development and to describe the main characteristics associated to this condition in children who present Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. A systematic review on syndromic craniosynostosis and oral language was performed, consulting Medline, Lilacs and other important references on this theme. CONCLUSION: several manifestations related to hearing and language have been detected in individuals with syndromic craniosynostosis. The most important are alterations in the sound conduction system, leading to hearing losses, and consequently interfering in language acquisition and development. For this reason, speech-language diagnosis and early intervention are recommended in order to eliminate or minimize damages in language acquisition and development.

A primeira iniciativa para incluir a atenção às anomalias craniofaciais no SUS ocorreu em 1993. Um importante avanço foi a criação da Rede de Referência no Tratamento de Deformidades Craniofaciais (RRTDCF), atualmente com 29 centros credenciados. Os objetivos deste estudo foram descrever e avaliar as características gerais da atenção às anomalias craniofaciais nos centros que integram a referida rede. Foi utilizado questionário semi-estruturado, remetido por correio. Obteve-se 86,2% de respostas. Os resultados demonstram agregação de centros no Sudeste, em universidades e na área de fissuras labiopalatais; financiamento predominantemente público; equipes constituídas principalmente de acordo com parâmetros norte-americanos; atendimento de rotina em cerca de 90% e utilização de protocolos em cerca de 70% dos centros. A denominação da RRTDCF não parece corresponder à sua abrangência. Os achados sugerem necessidade de revisão da definição, objetivos e abrangência da RRTDCF e dos critérios de credenciamento de centros.

The first initiative for treating craniofacial anomalies under the Brazilian Unified Health System was in 1993. An important step was the creation of the Reference Network for Craniofacial Treatment. There are now 29 services listed in this Network. The current study aimed to describe and assess the general characteristics of healthcare in this Network. Data were colleted by a questionnaire, sent to the centers. Response rate was 86.2%. The results showed an increase in services in Southeast Brazil, in universities, and in relation to cleft lip and palate; public financing was prevalent; team composition was largely in accordance with North American standards; routine care occurred in 90%; and 70% used clinical protocols. The Network's name does not appear to entirely reflect its scope. The results show the need to review the Network's definition, aims, and achievements and the standards for inclusion of craniofacial centers.