菱脑融合：融合的小脑，困惑的遗传学家。
Rhombencephalosynapsis: Fused cerebellum, confused geneticists.
机构信息
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA.
Department of Pediatrics, University of Washington, Seattle, WA.
出版信息
Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):432-439. doi: 10.1002/ajmg.c.31666.
Abstract
Rhombencephalosynapsis (RES) is a unique cerebellar malformation characterized by fusion of the cerebellar hemispheres with partial or complete absence of a recognizable cerebellar vermis. Subsets of patients also have other brain malformations such as midbrain fusion with aqueductal stenosis, characteristic craniofacial features (prominent forehead, flat midface, hypertelorism, ear abnormalities), and somatic malformations (heart, kidney, spine, and limb defects). Similar to known genetic brain malformations, the RES cerebellar malformation is highly stereotyped, yet no genetic causes have been identified. Here, we outline our current understanding of the genetic basis for RES, discuss limitations, and outline future approaches to identifying the causes of this fascinating brain malformation.
摘要
菱脑结合（RES）是一种独特的小脑畸形，其特征是小脑半球融合，而辨认不出有完整的小脑蚓部。部分患者还存在其他脑部畸形，如中脑融合伴导水管狭窄，具有特征性颅面特征（额突出、面中部平坦、眼球突出、耳部异常）和躯体畸形（心脏、肾脏、脊柱和肢体缺陷）。与已知的遗传性脑畸形类似，RES 小脑畸形高度刻板，但尚未确定遗传原因。在此，我们概述了对 RES 遗传基础的现有认识，讨论了局限性，并概述了确定这种引人入胜的脑畸形原因的未来方法。
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