Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. These cases open novel and unexpected interpretation of genetic findings. The nonrandom association of both FSHD and WBS points at a gene co-expression network providing hints for the identification of modules and functionally enriched pathways in the two conditions.

中文翻译：

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删除 Williams Beuren 综合征关键区域揭示了面肩肱型肌营养不良症。

在意大利国家登记处收集的 1339 例面肩肱型肌营养不良症 (FSHD) 无关病例中，我们发现了 3 例无关病例，他们在儿童早期出现威廉姆斯-伯伦综合征 (WBS) 的迹象，后来发展为 FSHD。这三个病例都带有与这两种疾病相关的分子缺陷。WBS 和 FSHD 的罕见性，分别为 7500 分之一和 20,000 分之一，这使得这两种疾病的随机关联不太可能。这些案例开启了对遗传发现的新颖和意想不到的解释。FSHD 和 WBS 的非随机关联指向基因共表达网络，为在两种情况下识别模块和功能丰富的途径提供了线索。