Macrocephaly-CapillaryMalformation:Analysisof13 Patients and Review of the Diagnostic Criteria

Macrocephaly–capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genomewide Copy Number Variation characterization of these patients, analyzethemainclinicalfeaturesofthissyndromeandproposea modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria. 2010 Wiley-Liss, Inc.