Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
Am J Med Genet A. 2012 Feb;158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.
The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive MEG with either vascular anomalies or syndactyly. In parallel, we propose that MPPH diagnostic criteria include progressive MEG and PMG, absence of the vascular anomalies and syndactyly characteristic of MCAP, and absence of brain heterotopia.
巨脑-毛细血管畸形综合征（M-CM），我们在此提议将其更名为巨脑-毛细血管畸形综合征（MCAP；也可称为巨脑-毛细血管畸形-多小脑回畸形综合征），以及最近描述的巨脑-多小脑回畸形-多指（趾）畸形-脑积水综合征（MPPH），这两种巨脑（MEG）疾病都涉及到一组独特的身体和神经影像学异常。我们比较了 42 例评估 MCAP 和 MPPH 的身体和神经影像学特征的患者的特征，并基于包括原发性 MEG 和生长失调、发育性血管异常（主要是毛细血管畸形）、远端肢体异常（如并指和多指畸形）、皮质脑畸形（最明显的多小脑回畸形，PMG）和可变结缔组织发育不良等类别的发育异常，提出了对这些综合征的更全面的看法。基于这些发育异常类别，我们提议将 MCAP 的诊断标准包括进行性 MEG 伴有血管异常或并指。同时，我们提议 MPPH 的诊断标准包括进行性 MEG 和 PMG，缺乏 MCAP 特征性的血管异常和并指，以及缺乏脑异位。
