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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...

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Detalles Bibliográficos
Autores principales: Mudaliyar, Umesh Shriniwas, Mudaliyar, Sneha Umesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The British Institute of Radiology 2017
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
Descripción
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.