5 documents found, page 1 of 1
New Ocular Findings in a Patient with a Novel Pathogenic Variant in the FBXO11 ...
Silva, RG; Dupont, J; Silva, E; Sousa, ABIntellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) is a recently described autosomal dominant entity caused by pathogenic variants, mostly de novo, in the FBXO11 gene. It presents in the first years of life with highly variable clinical manifestations. The main features of IDDFBA include borderline-to-severe intellectual disability, behavioral problems, hypotonia, f...
Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation Dis...
Dupont, J; Vieira, JP; Tavares, AL; Conceição, C; Khan, S; Bertoli-Avella, AM; Sousa, ABCongenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing ...
Encefalopatias Epilépticas Infantis: O Novo Paradigma do Diagnóstico Genético
Martins, R; Moldovan, O; Sousa, AB; Levy, A; Quintas, SINTRODUCTION: Epileptic encephalopathies of childhood are characterized by early seizure-onset and adverse neurological outcomes. The development of new genetic techniques has allowed an exponential identification of the genes that are involved. Over the last years, we have observed a revolution in the diagnostic paradigm. However, there are no international guidelines regarding the diagnosis of genetic epilept...
10 anos de experiência no tratamento de retinoblastoma
Santos, C; Coutinho, I; Azevedo, AR; Constantino, C; Sousa, AB; Pereira, F; Laranjeira, J; Cabral, J; Teixeira, SObjectivo: Descrever a experiência do Serviço de Oftalmologia do Hospital Prof. Doutor Fernando Fonseca no diagnóstico e tratamento de retinoblastoma entre Janeiro de 2004 e Dezembro de 2014. Métodos: Revisão retrospectiva dos processos clínicos e exames complementares de diagnóstico. Resultados: Foram tratados dezasseis doentes no período em estudo, sendo cinco casos bilaterais . O diagnóstico foi estabelecido...
Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portugu...
Barbosa, M; Sousa, AB; Medeira, A; Lourenço, T; Saraiva, J; Pinto-Basto, J; Soares, G; Fortuna, AM; Superti-Furga, A; Mittaz, L; Reis-Lima, M; Bonafé, LSLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). This study aimed at characterizing clinically, radiologically and molecularly 14 patients affected by non-lethal SLC26A2-related ...