Classical Ehlers–Danlos syndrome (cEDS) is a connective tissue disorder mainly caused by heterozygous COL5A1 or COL5A2 variants encoding type V collagen and rarely by the p.(Arg312Cys) missense substitution in COL1A1 encoding type I collagen. The current EDS nosology specifies that minimal suggestive criteria are marked skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility or at least three minor criteria comprising additional cutaneous and articular signs. To reach a final diagnosis, molecular testing is required. Herein, we report on a 3‐year‐old female who came to our attention with an inconclusive next generation sequencing (NGS) panel comprising all cEDS‐associated genes.

中文翻译：

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在不完全的经典Ehlers-Danlos综合征患者中鉴定新型COL5A1 c.3369_3431dup，p。（Glu1124_Gly1144dup）变体：表型指导的基因检测的重要性。

古典埃-当综合征（CEDS）是一种结缔组织疾病主要由杂合COL5A1或COL5A2变体被p编码V型胶原和很少。（Arg312Cys）中的错义置换COL1A1编码I型胶原蛋白。当前的EDS类别规定，最低提示标准是明显的皮肤过度扩张加上萎缩性瘢痕，以及全身性关节过度活动或至少三个包括附加皮肤和关节征兆的次要标准。为了进行最终诊断，需要进行分子检测。在本文中，我们报道了一位3岁女性，该女性引起了我们的关注，其不确定的下一代测序（NGS）面板包含所有与cEDS相关的基因。