Silver Russell Syndrome
Mostrando 1-12 de 16 artigos, teses e dissertações.
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1. Estudo genético da síndrome de Silver-Russell / Genetic studies of Silver-Russell syndrome
A síndrome de Silver-Russell (SRS) é caracterizada principalmente por grave retardo de crescimento intrauterino e pós-natal e face típica, pequena e triangular, entre outras características variáveis. A SRS é geneticamente heterogênea, ocorrendo em geral de forma esporádica. Mutações genéticas e epigenéticas em regiões sujeitas a imprinting gen
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/05/2011
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2. Reproductive ability of an adult female with Silver-Russell syndrome.
An adult female with typical features of Silver-Russell dwarfism gave birth to a viable infant. Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome, fertility is not necessarily impaired, at least in females. The growth and development of children with the Silver-Russell syndrome have been studied (Silver,
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3. Severe Silver-Russell syndrome.
Three children are described with severe Silver-Russell syndrome. Major medical problems occurred in the first two years of life in all three. Silver-Russell syndrome should be considered in the differential diagnosis of children with severe pre- and postnatal growth deficiency.
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4. Crossed asymmetry in Russell-Silver syndrome.
Since the initial report by Silver et al (1953), more than 50 examples of the Russell-Silver syndrome have been reported. Unilateral congenital asymmetry of the extremities has been considered one of the major features of this disorder (Silver, 1964). We recently observed a child with otherwise typical features of the Russell-Silver syndrome who had enlargem
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5. Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes.
A male child with features of the Russell-Silver syndrome, including pre- and postnatal growth delay, triangular facies, bilateral fifth finger clinodactyly, and disproportionate lower extremities, was found to have a ring chromosome 15 in all peripheral leucocytes examined. Review of the reported cases of ring chromosome 15 defines a malformation syndrome w
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6. Silver syndrome
When early in his career John Russell Silver described a previously unrecognised familial disease he expected it to remain a minor footnote in the medical record. But some 40 years later, identification of the gene responsible has led to research that is advancing our understanding of a wide spectrum of neurological diseases
BMJ Publishing Group Ltd..
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7. Russell-Silver syndrome.
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8. Cognitive abilities associated with the Silver-Russell syndrome.
There is no consensus opinion on whether or not cognitive impairments are found in the Silver-Russell syndrome. An investigation of a substantial sample was undertaken, using standardised assessments, in 20 boys and five girls aged 6.0 years to 11.8 years. Mean (SD) birth weights were -2.65 (0.95) SD scores, corrected for gestation. At evaluation the childre
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9. Unilateral disomy as a possible explanation for Russell-Silver syndrome.
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10. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome.
In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have bee
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11. Medical genetics: advances in brief: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
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12. 3M dwarfism: a study of two further sibs.
Two sibs are reported with clinical and radiological features of the 3M syndrome. The differential diagnosis is discussed, particularly with regard to Russell-Silver syndrome.