Achondrogenesis type II (ACG2) is a lethal skeletal disorder caused by pathogenic variants in COL2A1. We present a fetus with cystic hygroma and severe shortening of the limbs at 14 weeks of gestation. We performed postnatal genetic analysis of the parents and fetus to diagnose the disease. A novel missense variant of COL2A1 [NM_001844.5: c.2987G>A, (p. Gly996Asp)] was identified, which led to the ACG2 diagnosis.

中文翻译：

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II 型软骨发育不全胎儿的新型错义 COL2A1 变体

II 型软骨形成 (ACG2) 是由COL2A1的致病性变异引起的致命性骨骼疾病。我们在妊娠 14 周时展示了一个患有囊性水瘤和四肢严重缩短的胎儿。我们对父母和胎儿进行了产后遗传分析以诊断该病。鉴定了COL2A1 [NM_001844.5: c.2987G>A, (p. Gly996Asp)]的一种新型错义变体，这导致了 ACG2 诊断。