Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and transcription process. The overlapping features in these two syndromes may complicate the original diagnosis of a patient. Here, we report on a Wiedemann-Steiner patient found to have a de novo pathogenic KMT2A variation who had been clinically suspected as CdLS. We suggest that targeted next-generation sequencing is a feasible tool for the precise diagnosis of patients who have phenotypically and clinically overlapping features of CdLS and WDSTS.
Mol Syndromol

中文翻译：

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Wiedemann-Steiner 综合征作为使用靶向下一代测序的 Cornelia de Lange 综合征的鉴别诊断：病例报告

Wiedemann-Steiner 综合征 (WDSTS) 是一种罕见的常染色体显性遗传病，具有多种临床表型，包括同瞳、眼距过长、眉毛浓密、睫毛长、鼻梁宽、人中长、多毛症、生长迟缓和智力障碍。Cornelia de Lange 综合征 (CdLS) 是一种罕见的疾病，其特征是神经节、长睫毛、四肢异常、全身多毛症、生长迟缓和智力障碍。在 WDSTS 和 CdLS 中，畸形是由于编码染色质调节和转录过程成分的基因缺陷引起的转录组干扰。这两种综合征的重叠特征可能会使患者的原始诊断复杂化。在这里，我们报告了一名 Wiedemann-Steiner 患者被发现具有新发致病性KMT2A变化谁已临床怀疑为CDL的。我们建议靶向二代测序是精确诊断具有 CdLS 和 WDSTS 表型和临床重叠特征的患者的可行工具。
摩尔综合征