The Experts below are selected from a list of 78 Experts worldwide ranked by ideXlab platform
Maria Leine Guion-almeida - One of the best experts on this subject based on the ideXlab platform.
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Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature
European Journal of Human Genetics, 2007Co-Authors: Siulan Vendramini, Antonio Richieri-costa, Maria Leine Guion-almeidaAbstract:The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these structures result in variable maxillary, mandibular, and ear abnormalities. These anomalies can be isolated or part of some known and unknown conditions, among them, the oculoauriculovertebral spectrum (OAVS). Malformations of the external ear or microtia are mandatory features of the OAVS and occur as an isolated malformation (population frequency of 0.03%), or in association with other anomalies such as Mandible Hypoplasia, epibulbar dermoids, and spinal vertebral defects. Extreme variability of phenotypic manifestations is the main feature of the OAVS and, developmental anomalies are not restricted to facial structures. Cardiac, pulmonary, renal, skeletal, and central nervous system involvements have been observed in patients presented with this condition. Radial defects, although rare, have been reported. In this study, we report on the clinical aspects of 14 Brazilian patients with first and second branchial arches abnormalities associated with radial defects and we compared these data with those of 26 cases in the literature. We postulate that radial defects associated with OAVS might represent a subset within this spectrum.
Rodríguez-moreno Antonio - One of the best experts on this subject based on the ideXlab platform.
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Una revisión actualizada del síndrome de deleción (monosomía) 1p36
Sociedad Chilena de Pediatría. Published by Elsevier España S.L.U., 2016Co-Authors: Bello Sabina, Rodríguez-moreno AntonioAbstract:ResumenEl síndrome de monosomía 1p36 forma parte del grupo de enfermedades conocidas como «enfermedades de baja prevalencia» o «enfermedades raras». El objetivo del presente trabajo es revisar los hallazgos de los principales estudios realizados en niños diagnosticados con el síndrome de monosomía 1p36.El fenotipo del síndrome de deleción (monosomía) 1p36 delineado desde 1997 incluye rasgos craneofaciales dismórficos: fontanela anterior grande, cejas rectas, ojos hundidos, epicanto, raíz/puente nasal anchos, hipoplasia del tercio medio facial, orejas implantadas anormalmente, filtrum largo y barbilla puntiaguda; alteraciones neurológicas: convulsiones e hidrocefalia (en casos aislados); malformaciones cerebrales observadas en imágenes por resonancia magnética (IRM): ensanchamiento ventricular, ensanchamiento de espacios subaracnoideos, alteraciones morfológicas del cuerpo calloso, entre otras. La IRM evidencia en algunos pacientes atrofia cortical, retraso en la mielinización, áreas multifocales hiperintensas, leucomalacia periventricular y heterotopia periventricular. Estos pacientes cursan con discapacidad intelectual, retrasos en el desarrollo motor, de la comunicación, del lenguaje, en el área personal-social y en la conducta adaptativa. También se observan alteraciones en el sistema auditivo, visual, cardiaco, endocrino, genitourinario, dermatológico y esquelético.ConclusionesExisten datos de aproximadamente 100 casos en el mundo desde 1981. Esta enfermedad rara es el síndrome más común de microdeleción subtelomérica. La técnica de hibridación in situ con fluorescencia y la técnica de hibridación genómica comparativa (array-CGH) son las que mejor permiten su diagnóstico. Por el momento no existe ningún tratamiento médico efectivo para esta enfermedad.AbstractThe Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome.The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, Mandible Hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level.ConclusionsApproximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease
Siulan Vendramini - One of the best experts on this subject based on the ideXlab platform.
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Oculoauriculovertebral spectrum with radial defects: a new syndrome or an extension of the oculoauriculovertebral spectrum? Report of fourteen Brazilian cases and review of the literature
European Journal of Human Genetics, 2007Co-Authors: Siulan Vendramini, Antonio Richieri-costa, Maria Leine Guion-almeidaAbstract:The first and second branchial arches are embryonic primordium that contributes to craniofacial development. Interferences in normal development of these structures result in variable maxillary, mandibular, and ear abnormalities. These anomalies can be isolated or part of some known and unknown conditions, among them, the oculoauriculovertebral spectrum (OAVS). Malformations of the external ear or microtia are mandatory features of the OAVS and occur as an isolated malformation (population frequency of 0.03%), or in association with other anomalies such as Mandible Hypoplasia, epibulbar dermoids, and spinal vertebral defects. Extreme variability of phenotypic manifestations is the main feature of the OAVS and, developmental anomalies are not restricted to facial structures. Cardiac, pulmonary, renal, skeletal, and central nervous system involvements have been observed in patients presented with this condition. Radial defects, although rare, have been reported. In this study, we report on the clinical aspects of 14 Brazilian patients with first and second branchial arches abnormalities associated with radial defects and we compared these data with those of 26 cases in the literature. We postulate that radial defects associated with OAVS might represent a subset within this spectrum.
Antonio Rodríguez-moreno - One of the best experts on this subject based on the ideXlab platform.
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Una revisión actualizada del síndrome de deleción (monosomía) 1p36
Revista chilena de pediatria, 2016Co-Authors: Sabina A Bello, Antonio Rodríguez-morenoAbstract:The Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome. The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, Mandible Hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations : seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level. Conclusions: Approximately 100 cases have been documented since 1981. This rare disease is the most common sub-telomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease.
Bello Sabina - One of the best experts on this subject based on the ideXlab platform.
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Una revisión actualizada del síndrome de deleción (monosomía) 1p36
Sociedad Chilena de Pediatría. Published by Elsevier España S.L.U., 2016Co-Authors: Bello Sabina, Rodríguez-moreno AntonioAbstract:ResumenEl síndrome de monosomía 1p36 forma parte del grupo de enfermedades conocidas como «enfermedades de baja prevalencia» o «enfermedades raras». El objetivo del presente trabajo es revisar los hallazgos de los principales estudios realizados en niños diagnosticados con el síndrome de monosomía 1p36.El fenotipo del síndrome de deleción (monosomía) 1p36 delineado desde 1997 incluye rasgos craneofaciales dismórficos: fontanela anterior grande, cejas rectas, ojos hundidos, epicanto, raíz/puente nasal anchos, hipoplasia del tercio medio facial, orejas implantadas anormalmente, filtrum largo y barbilla puntiaguda; alteraciones neurológicas: convulsiones e hidrocefalia (en casos aislados); malformaciones cerebrales observadas en imágenes por resonancia magnética (IRM): ensanchamiento ventricular, ensanchamiento de espacios subaracnoideos, alteraciones morfológicas del cuerpo calloso, entre otras. La IRM evidencia en algunos pacientes atrofia cortical, retraso en la mielinización, áreas multifocales hiperintensas, leucomalacia periventricular y heterotopia periventricular. Estos pacientes cursan con discapacidad intelectual, retrasos en el desarrollo motor, de la comunicación, del lenguaje, en el área personal-social y en la conducta adaptativa. También se observan alteraciones en el sistema auditivo, visual, cardiaco, endocrino, genitourinario, dermatológico y esquelético.ConclusionesExisten datos de aproximadamente 100 casos en el mundo desde 1981. Esta enfermedad rara es el síndrome más común de microdeleción subtelomérica. La técnica de hibridación in situ con fluorescencia y la técnica de hibridación genómica comparativa (array-CGH) son las que mejor permiten su diagnóstico. Por el momento no existe ningún tratamiento médico efectivo para esta enfermedad.AbstractThe Monosomy 1p36 deletion syndrome is part of the group of diseases known as Rare Diseases. The objective of the present work is to review the characteristics of Monosomy 1p36 deletion syndrome.The monosomy 1p36 deletion syndrome phenotype includes: dysmorphic craniofacial features; large anterior fontanelle, unibrow, deep-set eyes, epicanthus, wide nasal root/bridge, Mandible Hypoplasia, abnormal location of the pinna, philtrum and pointed chin; neurological alterations: seizures and hydrocephalus (in some cases). Cerebral malformations: ventricular hypertrophy, increased subarachnoid space, morphological alterations of corpus callosum, cortical atrophy, delays in myelinisation, periventricular leukomalacia and periventricular heterotopia. These alterations produce intellectual disability and delays in motor growth, communication skills, language, social and adaptive behaviour. It is Hearing and vision impairments are also observed in subjects with this syndrome, as well as alterations of cardiac, endocrine and urinary systems and alterations at skin and skeletal level.ConclusionsApproximately 100 cases have been documented since 1981. This rare disease is the most common subtelomeric-micro-deletion syndrome. In situ hybridization with fluorescence (FISH) and array-comparative genomic hybridization (CGH-array) are at present the two best diagnostic techniques. There is currently no effective medical treatment for this disease