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

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

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

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.

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