Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
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DOI：
10.1002/ajmg.a.34402
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发表时间：
2012-02-01
影响因子：
2
通讯作者：
Dobyns, William B.
中科院分区：
文献类型：
--
作者：
Mirzaa, Ghayda M.;Conway, Robert L.;Dobyns, William B.
巨脑-毛细血管畸形综合征（M-CM），我们在这里建议重新命名为巨脑-毛细血管畸形综合征（MCAP;或者巨脑-毛细血管畸形-多小脑回综合征），和最近描述的巨脑-多小脑回-多指-脑积水综合征（MPPH）是两种涉及独特的物理和神经影像学异常的巨脑（MEG）疾病。我们比较了42例MCAP和MPPH患者的身体和神经影像学特征，并根据发育异常的分类（包括原发性MEG和生长失调、发育性血管异常），提出了对这些综合征更全面的看法。（主要是毛细血管畸形），远端肢体异常（例如并指和多指）、皮质脑畸形（最明显的是多脑回症，PMG）和可变结缔组织发育不良。基于这些类型的发育异常，我们建议MCAP的诊断标准包括进行性MEG与血管异常或并指畸形。同时，我们建议MPPH的诊断标准包括进行性MEG和PMG，没有血管异常和MCAP的并指特征，以及没有脑异位。(C)2012 Wiley Periodicals，Inc.
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. (C) 2012 Wiley Periodicals, Inc.