Estudo genético-clínico das craniostenoses isoladas e associadas
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Data
1997
Autores
Alonso, Luis Garcia [UNIFESP]
Orientadores
Brunoni, Decio [UNIFESP]
Tipo
Dissertação de mestrado
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Foram avaliados 24 pacientes (18 probandos), com suspeita diagnostica de craniostenose isolada ou associada, na Unidade de Dismorfologia e Genetica Clinica da Disciplina de Genetica do Departamento de Morfologia (UNIFESP-EPM), no Centro de Genetica Medica dos Departamentos de Morfologia e Pediatria (UNIFESP-EPM) e oriundos do Ambulatorio de Neurocirurgia Pediatrica da Disciplina de Neurocirurgia do Departamento de Neurologia e Neurocirurgia (UNIFESP-EPM), prospectivamente, no periodo de Agosto de 1995 a Dezembro de 1996. Em todos os diagnosticos nosologico foi clinicamente suspeitado, sendo estabelecido atraves da avaliacao clinica e estudo imagenologico (radiografia simples do esqueleto, tomografias convencional e com reconstrucao tridimensional e ressonancia nuclear magnetica). O diagnostico tipo especifico foi confirmado em todos os casos sendo: Dolicocefalia Isolada Esporadica (2 afetados), Braquicefalia Isolada Esporadica (2 afetados), Plagiocefalia Isolada Esporadica (2 afetados), Trigonocefalia Isolada Esporadica (1 afetado), Cranio em trevo Isolado (1 afetado), Dolicocefalia Isolada Familial (2 afetados), Braqui-Plagiocefalia Isolada Familial (5 afetados), Sindrome de Crouzon (2 afetados), Sindrome de Apert (1 afetado), Sindrome de Pfeiffer (1 afetado), Sindrome de Carpenter (1 afetado), Displasia Cranio-Fronto-Nasal (1 afetado), Sindrome de Lopez-Hernandez (1 afetado) e Sindrome de Jackson-Weiss (2 afetados). Quanto ao sexo, observamos que 12 pacientes eram do sexo masculino (50,0%) e 12 do sexo feminino (50,0%). A idade dos afetados variou de 2 meses a 54 anos, com media de 10,3 anos. A media da idade dos pais e das maes foi de 40,3 e 32,1 anos, respectivamente. A consanguinidade parental foi verificada em 3 casos (16,7%). Das 18 genealogias estudadas, em 15 (83,3%) os probandos eram casos esporadicos, ao passo que em 3 (16,7%) eram familiais. Independente do diagnostico clinico estabelecido, o padrao craniano mais frequente foi a braquicefalia em 11 casos (45,8%). O estudo radiologico do esqueleto foi realizado em todos os pacientes e contribuiu para a caracterizacao do formato do cranio. As tomografias, computadorizada convencional e com reconstrucao tridimensional ou helicoidal foram realizadas em 84,2% dos casos e determinaram a exata extensao do comprometimento da(s) sutura(s) envolvida(s), sendo a segunda, ideal para o diagnostico, com alta especificidade e sensibilidade. A ressonancia nuclear magnetica foi efetuada em 1 caso para elucidacao diagnostica. Um Algoritmo de Apoio a Decisao Diagnostica nas Craniostenoses Isoladas e Associadas Monogenicas e Ambientais foi proposto, com o objetivo de auxiliar o esclarecimento diagnostico, bem como a procura de malformacoes ocultas em diferentes quadros sindromicos. O Aconselhamento Genetico foi efetuado em todos os casos. O risco de recorrencia, na irmandade do probando, de 25% foi estabelecido em 5,6% dos casos, por tratar-se de heranca autossomica recessiva; de 50% em 16,7% deles, por tratar-se de heranca autossomica dominante e, em 72,2%, o risco foi menor que 1%, por tratar-se de casos com mutacoes novas dominantes. Na prole dos propositos, o risco de recorrencia de 50% foi estabelecido em 88,9% dos casos. Em 1 caso, o risco considerado foi menor que 1% e no diagnostico da Sindrome de Lopez-Hernandez, nao foram determinados riscos de recorrencia, na prole e irmandade do probando, por tratar-se de quadro raro cujo padrao de heranca permanece desconhecido. Para tal, faz-se necessaria constante atualizacao da literatura quanto aos aspectos dos riscos reprodutivos envolvidos visando a orientacao do afetado e seus parentes em 1º grau
Twenty-four patients (18 probands), with isolated or associated craniosynostosis, were evaluated in several units of São Paulo Federal University-Paulista Medical School: Dysmorphology Unit, Division of Genetics, Department of Morphology; Medical Genetic Center, Departments of Morphology and Pediatrics, and derived from Pediatric Neurosurgery Clinic, Division of Neurosurgery, Department of Neurology and Neurosurgery, prospectively from August, 1995 to December, 1996. The nosologic diagnosis was established and confirmed in all of them through clinical evaluation and imagenological studies (skeleton X-ray, conventional and three-dimensional reconstruction tomography and nuclear magnetic resonance). The specific type diagnosis was confirmed in all cases and were: Sporadic Isolated Dolichocephaly (2 cases), Sporadic Isolated Brachycephaly (2 cases), Sporadic Isolated Plagiocephaly (2 cases), Sporadic Isolated Trigonocephaly (1 case), Isolated Cloverleaf Skull Malformation (1 case), Familial Isolated Dolichocephaly (2 cases), Familial Brachy-Plagiocephaly (5 cases), Crouzon Syndrome (2 cases), Apert Syndrome (1 case), Pfeiffer Syndrome (1 case), Carpenter Syndrome (1 case), Craniofrontonasal Dysplasia (1 case), Lopez-Hernandez Syndrome (1 case), and Jackson-Weiss Syndrome (2 cases). Regarding to the sex, we observed 12 male patients (50.0%) and 12 female ones (50.0%), whose average age was 10.3 years ranging from 2 months to 54 years old. Despite the clinical diagnosis, brachicephaly was found in 11 cases (45.8%). Fathers and mothers average age was 40.3 and 32.1 years, respectively. The parental consanguinity was observed in 3 cases (16.7%). In the 18 genealogies, 15 (83.3%) were sporadic cases and 3 (16.7%) were familial ones. The skeleton radiological study was realized in all cases to characterize the skull form. Conventional and three-dimensional reconstruction tomography were realized in 84.2% of them to determine the extension of the involved suture(s), being the last one more specific and sensible for the diagnosis. Nuclear magnetic resonance was done in one case to diagnostic elucidation. A Monogenic and Environmentally-induced Isolated and Syndromic Craniosynostosis Diagnosis Decision Apport Algorithm was proposed to aid the diagnosis and the investigation of hidden malformations in distinct syndromes. The Genetic Counseling was done in all cases. The recurrence risk, in brotherhood's proband, of 25% was established in 5.6% of the cases (autosomal recessive inheritance); in 16.7% there was a risk of 50% (autosomal dominant inheritance), and in 72.2% of them, the risk was less than 1% (autosomal dominant new mutations). In propositus offspring, the recurrence risk of 50% was established in 88.9% of the cases. In one of them, the risk was less than 1%. In Lopez-Hernandez syndrome, the risks were not established because the inheritance pattern is unknown. To reach this aim, the literature must be permanently updated regarding to the reproductive risks involved to orient the patient and his first degree relatives.
Twenty-four patients (18 probands), with isolated or associated craniosynostosis, were evaluated in several units of São Paulo Federal University-Paulista Medical School: Dysmorphology Unit, Division of Genetics, Department of Morphology; Medical Genetic Center, Departments of Morphology and Pediatrics, and derived from Pediatric Neurosurgery Clinic, Division of Neurosurgery, Department of Neurology and Neurosurgery, prospectively from August, 1995 to December, 1996. The nosologic diagnosis was established and confirmed in all of them through clinical evaluation and imagenological studies (skeleton X-ray, conventional and three-dimensional reconstruction tomography and nuclear magnetic resonance). The specific type diagnosis was confirmed in all cases and were: Sporadic Isolated Dolichocephaly (2 cases), Sporadic Isolated Brachycephaly (2 cases), Sporadic Isolated Plagiocephaly (2 cases), Sporadic Isolated Trigonocephaly (1 case), Isolated Cloverleaf Skull Malformation (1 case), Familial Isolated Dolichocephaly (2 cases), Familial Brachy-Plagiocephaly (5 cases), Crouzon Syndrome (2 cases), Apert Syndrome (1 case), Pfeiffer Syndrome (1 case), Carpenter Syndrome (1 case), Craniofrontonasal Dysplasia (1 case), Lopez-Hernandez Syndrome (1 case), and Jackson-Weiss Syndrome (2 cases). Regarding to the sex, we observed 12 male patients (50.0%) and 12 female ones (50.0%), whose average age was 10.3 years ranging from 2 months to 54 years old. Despite the clinical diagnosis, brachicephaly was found in 11 cases (45.8%). Fathers and mothers average age was 40.3 and 32.1 years, respectively. The parental consanguinity was observed in 3 cases (16.7%). In the 18 genealogies, 15 (83.3%) were sporadic cases and 3 (16.7%) were familial ones. The skeleton radiological study was realized in all cases to characterize the skull form. Conventional and three-dimensional reconstruction tomography were realized in 84.2% of them to determine the extension of the involved suture(s), being the last one more specific and sensible for the diagnosis. Nuclear magnetic resonance was done in one case to diagnostic elucidation. A Monogenic and Environmentally-induced Isolated and Syndromic Craniosynostosis Diagnosis Decision Apport Algorithm was proposed to aid the diagnosis and the investigation of hidden malformations in distinct syndromes. The Genetic Counseling was done in all cases. The recurrence risk, in brotherhood's proband, of 25% was established in 5.6% of the cases (autosomal recessive inheritance); in 16.7% there was a risk of 50% (autosomal dominant inheritance), and in 72.2% of them, the risk was less than 1% (autosomal dominant new mutations). In propositus offspring, the recurrence risk of 50% was established in 88.9% of the cases. In one of them, the risk was less than 1%. In Lopez-Hernandez syndrome, the risks were not established because the inheritance pattern is unknown. To reach this aim, the literature must be permanently updated regarding to the reproductive risks involved to orient the patient and his first degree relatives.
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Citação
ALONSO, Luis Garcia. Estudo genético-clínico das craniostenoses isoladas e associadas. Dissertação (Mestrado em Ciências) - Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), São Paulo, 1997.