Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
Am J Med Genet A. 2010 Dec;152A(12):3101-6. doi: 10.1002/ajmg.a.33514.
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.
巨颅-毛细血管畸形（M-CM）是一种病因不明的遗传综合征，其特征为头围增大和斑片状、网状毛细血管畸形。我们描述了 13 例病例的临床特征，报告了这些患者的全基因组拷贝数变异特征，分析了该综合征的主要临床特征，并提出了对当前诊断标准的修改：将过度生长/不对称和神经影像学改变均作为主要标准纳入。
