Usage of "malformation syndrome"

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).

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malformative syndrome

Ús de malformation syndrome en anglès

This disorder constitutes another recognizable malformation syndrome with a metabolic basis. 
 Pubmed 

Antley-Bixler syndrome (ABS) is a skeletal malformation syndrome primarily affecting the skull and limbs. 
 Pubmed 

We report on the unusual association of a malformation syndrome with mental retardation resembling SLOS and profound hypocholesterolemia related to familial hypobetalipoproteinemia. 
 Pubmed 

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 

Summary: Genes involved in vascular stability pathways are good candidates for causing vascular malformation syndromes. 
 Pubmed 

Recent findings: Genes responsible for familial vascular malformation syndromes have increasingly been shown to be involved in the control of vascular stability. 
 Pubmed 

Conclusions: Our results emphasize the importance of considering CM-AVM2 as part of the clinical differential for HHT and other vascular malformation syndromes. 
 Pubmed 

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 

Taken together, the RASopathies represent one of the most prevalent groups of malformation syndromes affecting greater than 1 in 1,000 individuals. 
 Pubmed 

Homeotic transformations of the axial skeleton have an incidence of about 1%-5%, apart from their occurrence in malformation syndromes. 
 Pubmed 

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Significats de malformation syndrome en anglès