Vascular malformations and upper extremity anomalies associated with a subtelomeric microdeletion of chromosome 4p.

摘要

We report the first case, to our knowledge, of a de-novo subtelomeric microdeletion of chromosome 4p in a patient with multiple vascular malformations, unilateral syndactyly and bilateral macrodactyly. The best-known clinical consequence of a subtelomeric microdeletion of chromosome 4p is the Wolf-Hirschhorn syndrome (WHS) owing to the deletion of the 4pl6.3 band, but our case is clearly distinct from WHS, both clinically and genetically. Fibroblast growth factor receptor 3 (FGFR3) may be indirectly implicated in the pathogenesis of this new association. Further systematic genetic screening of vascular anomalies may reveal new cases of 4p chromosomal defects and may help to find a better definition of this clinical entity.