Macrocephaly-Capillary Malformation: Analysis of 13 Patients and Review of the Diagnostic Criteria

作者：Martinez Glez Victor^*; Romanelli Valeria; Mori Maria A; Gracia Ricardo; Segovia Mabel; Gonzalez Meneses Antonio; Lopez Gutierrez Juan C; Gean Esther; Martorell Loreto; Lapunzina Pablo

来源：American Journal of Medical Genetics, Part A, 2010, 152A(12): 3101-3106.

DOI：10.1002/ajmg.a.33514

• overgrowth syndrome
• capillary malformation
• enlarged head circumference
• diagnostic criteria
• neuroimaging alterations

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.

• 出版日期2010-12
• 单位河北医科大学