Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
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DOI：
10.1002/ajmg.a.35561
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发表时间：
2012-10
影响因子：
2
通讯作者：
Dobyns, William B.
中科院分区：
文献类型：
--
作者：
Tully, Hannah M.;Dempsey, Jennifer C.;Ishak, Gisele E.;Adam, Margaret P.;Curry, Cynthia J. R.;Sanchez-Lara, Pedro;Hunter, Alasdair;Gripp, Karen W.;Allanson, Judith;Cunniff, Christopher;Glass, Ian;Millen, Kathleen J.;Doherty, Daniel;Dobyns, William B.
关键词：
摘要菱脑突触症是一种罕见的小脑畸形，其特徴为两半球融合而无蚓部介入。经常与Gómez-López-Hernández综合征相关，RES也与VEGL特征和前脑无裂畸形（HPE）一起发生。我们试图在一个大的患者队列中确定RES的全部表型谱。通过数据库审查、患者问卷调查、影像学和形态学评估以及统计学分析获得信息。我们评估了53名患者。脱发33例，三叉神经阻滞3例，VEP 14例，HPE伴房室传导阻滞2例。在整个队列中观察到特定的颅面特征，但在脱发患者中更常见。我们注意到各集团之间存在大量重叠。我们的结论是，尽管可以划分出一些不同的亚组，但我们队列中观察到的重叠特征表明了一系列潜在的RES相关畸形，而不是一系列离散综合征。
Rhombencephalosynapsis (RES) is an uncommon cerebellar malformation characterized by fusion of the hemispheres without an intervening vermis. Frequently described in association with Gómez-López-Hernández syndrome, RES also occurs in conjunction with VACTERL features and with holoprosencephaly (HPE). We sought to determine the full phenotypic spectrum of RES in a large cohort of patients. Information was obtained through database review, patient questionnaire, radiographic and morphologic assessment, and statistical analysis. We assessed 53 patients. 33 had alopecia, 3 had trigeminal anesthesia, 14 had VACTERL features and 2 had HPE with aventriculy. Specific craniofacial features were seen throughout the cohort, but were more common in patients with alopecia. We noted substantial overlap between groups. We conclude that although some distinct subgroups can be delineated, the overlapping features seen in our cohort suggest an underlying spectrum of RES-associated malformations rather than a collection of discrete syndromes.
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