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Meanings of malformative syndrome in anglès
A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).
This disorder constitutes another recognizable malformationsyndrome with a metabolic basis.
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Antley-Bixler syndrome (ABS) is a skeletal malformationsyndrome primarily affecting the skull and limbs.
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We report on the unusual association of a malformationsyndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia.
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The phenotype is genetically heterogeneous, and it can be identified either as an isolated phenotypic manifestation or as a constituent component of a malformationsyndrome.
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Summary: Genes involved in vascular stability pathways are good candidates for causing vascular malformationsyndromes.
Usage of malformative syndrome in anglès
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It was not possible to delineate if this was a case of a new malformativesyndrome or the coincidence of two different disorders.