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- W2015422711 abstract "El síndrome de Van der Woude es una entidad autosómica dominante, y está caracterizado por hoyuelos en el labio inferior y labio o paladar hendido. También, se han comunicado otras anomalías congénitas asociadas, como defectos cardíacos congénitos y anomalías en los miembros. Así, se ha observado una amplia variación en el grado de afección en los portadores del gen, incluso en la misma familia. El diagnóstico prenatal es de gran importancia, debido a la variable expresión de fenotipo. En este sentido, la ecografía de alta resolución y el ecocardiograma fetal ayudan en la caracterización prenatal de la gravedad. Van der Woude syndrome is an autosomal dominant syndrome characterized by lower lip pits and a cleft lip or palate. Other associated congenital anomalies such as congenital heart defects and limb anomalies have been described. There are wide variations in the degree to wich those carrying the gene may be affected, even within families. Due to the variable expressivity of the phenotype is important the prenatal diagnosis. High-resolution ultrasounds and fetal echocardiography may be of some use in prenatally characterizing the severity of the phenotype." @default.
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- W2015422711 date "2003-01-01" @default.
- W2015422711 modified "2023-09-27" @default.
- W2015422711 title "Síndrome de Van der Woude: a propósito de un caso" @default.
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- W2015422711 doi "https://doi.org/10.1016/s0304-5013(03)75872-5" @default.
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