Phelan McDermid syndrome (PMS) is a neurogenetic disorder characterized by global developmental delay, intellectual disability, absent or severely impaired language, and hypotonia, combined with a broad spectrum of other clinical symptoms and variable dysmorphic features.

Epilepsy is present or develops in a substantial number of these patients but it is origin is still unclear, especially whether there are perhaps subtle malformations in this developmental disorder that have so far not been identified by conventional MRI. In order to clarify this open question, we have investigated 14 patients with PMS by means of high-resolution MRI with subsequent automatic morphometric MRI postprocessing analysis.

Phelan McDermid 综合征 (PMS) 是一种神经遗传性疾病，其特征是全面发育迟缓、智力障碍、语言缺失或严重受损和肌张力减退，并伴有广泛的其他临床症状和可变的畸形特征。

这些患者中有相当数量存在或发展为癫痫，但其起源仍不清楚，尤其是这种发育障碍中是否存在迄今为止常规 MRI 尚未发现的细微畸形。为了澄清这个悬而未决的问题，我们通过高分辨率 MRI 以及随后的自动形态测量 MRI 后处理分析调查了 14 名 PMS 患者。