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  • Title: Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
    Author: Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P.
    Journal: Am J Med Genet A; 2010 Dec; 152A(12):3101-6. PubMed ID: 21077203.
    Abstract:
    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 genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria.
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