A Clinical Study Of 31 Individuals With Midline Facial Defects With Hypertelorism And A Guideline For Follow-up.

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.65396-40

Developmental aspects of oral language in craniosynostosis

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.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.21322

Angular Analysis Of Corpus Callosum In 18 Patients With Frontonasal Dysplasia.

Considering the rarity of the frontonasal dysplasia (FD) and the few reports about it in a large casuistry using magnetic resonance image (MRI), we describe the results of the angular analysis of the corpus callosum of 18 individuals with FD (7 male, 11 female), using an easily-reproductive method. Group I had 12 individuals with isolated form and Group II had 6 individuals with FD syndromic with unknown etiology. The results are presented in set. Comparing with the control group, patients with FD presented alpha angle increase and beta and gamma angles reduction (p<0.05). Alpha and gamma angles express the relationship between the anterior portion of corpus callosum and the floor of 4th ventricle. Considering the embryonary development, these findings would occur secondarily to failure during the development of nasal capsula. Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD.62195-

Cranial nerve cavernous malformations causing trigeminal neuralgia and chiasmal apoplexy: report of 2 cases and review of literature

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.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

Experiência de profissionais de saúde da família com pessoas com fendas orofaciais no Brasil

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.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.23724

[the Use Of Fish On Buccal Smear To Investigate Mosaicism With A 45,x Cell Line: Study On Healthy Men And Patients With Disorders Of Sex Development].

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. 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. 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. 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.58328-3