Term Gallery logo

Significats de malformation syndrome en 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).

Veure'n més
        Ús de malformation syndrome en anglès
        1
        This disorder constitutes another recognizable malformation syndrome with a metabolic basis.
        Pubmed
        2
        Antley-Bixler syndrome (ABS) is a skeletal malformation syndrome primarily affecting the skull and limbs.
        Pubmed
        3
        We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia.
        Pubmed
        4
        The phenotype is genetically heterogeneous, and it can be identified either as an isolated phenotypic manifestation or as a constituent component of a malformation syndrome.
        Pubmed
        5
        Summary: Genes involved in vascular stability pathways are good candidates for causing vascular malformation syndromes.
        Pubmed
        6
        Recent findings: Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability.
        Pubmed
        7
        Conclusions: Our results emphasize the importance of considering CM-AVM2 as part of the clinical differential for HHT and other vascular malformation syndromes.
        Pubmed
        8
        Purpose of review: The genetic basis for a variety of vascular malformation syndromes have been described, with an increasing functional understanding of the associated genes.
        Pubmed
        9
        Taken together, the RASopathies represent one of the most prevalent groups of malformation syndromes affecting greater than 1 in 1,000 individuals.
        Pubmed
        10
        Homeotic transformations of the axial skeleton have an incidence of about 1%-5%, apart from their occurrence in malformation syndromes.
        Pubmed