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Strawberry skull in Edwards syndrome
The trisomy 18 syndrome, also known as Edwards syndrome, is the second most common disorder after trisomy 21 (Down's syndrome). It is a chromosomal disorder due to the presence of an extra chromosome 18, which could be either full, mosaic trisomy or partial trisomy 18q. The live born prevalence...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The British Institute of Radiology
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159170/ https://www.ncbi.nlm.nih.gov/pubmed/30363185 http://dx.doi.org/10.1259/bjrcr.20170045 |
Sumario: | The trisomy 18 syndrome, also known as Edwards syndrome, is the second most common disorder after trisomy 21 (Down's syndrome). It is a chromosomal disorder due to the presence of an extra chromosome 18, which could be either full, mosaic trisomy or partial trisomy 18q. The live born prevalence is estimated as 1/3,000 –1/8,000, but the overall prevalence is higher 1/2500–1/2600 due to the high frequency of foetal loss and pregnancy termination after the prenatal diagnosis. We are presenting a case of Edwards syndrome diagnosed during routine antenatal scan. |
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