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Meanings of malformation syndrome in English
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).
See moreUsage of malformation syndrome in English
1
This disorder constitutes another recognizable malformation syndrome with a metabolic basis.
2
Antley-Bixler syndrome (ABS) is a skeletal malformation syndrome primarily affecting the skull and limbs.
3
We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia.
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.
5
Summary: Genes involved in vascular stability pathways are good candidates for causing vascular malformation syndromes.
6
Recent findings: Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability.
7
Conclusions: Our results emphasize the importance of considering CM-AVM2 as part of the clinical differential for HHT and other vascular malformation syndromes.
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.
9
Taken together, the RASopathies represent one of the most prevalent groups of malformation syndromes affecting greater than 1 in 1,000 individuals.
10
Homeotic transformations of the axial skeleton have an incidence of about 1%-5%, apart from their occurrence in malformation syndromes.