Abstract：
BACKGROUND: An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related to external malformation and neurodevelopment. There have been no reports on severe respiratory dysfunction resulting in surgical treatments not being possible due to the deformity resulting from in this disease. Here we report a female with arthrogryposis multiplex congenita with a severe respiratory complication.
METHODS: A two-year-old girl had arthrogryposis multiplex congenita at delivery and subsequently had hypotonia and feeding difficulty. A novel ZC4H2 frameshift variant was identified by whole-exome sequencing in her genome. At eight months, she had recurrent aspiration pneumonia. A tracheostomy and gastrostomy were required; however, surgical intervention was not possible because of her short neck and complicated airway.
CONCLUSIONS: We compared this case with previous reports. The truncation group had more described phenotypes than the non-truncation group. The patient had the most severe respiratory dysfunction in truncating variant.
METHODS: A two-year-old girl had arthrogryposis multiplex congenita at delivery and subsequently had hypotonia and feeding difficulty. A novel ZC4H2 frameshift variant was identified by whole-exome sequencing in her genome. At eight months, she had recurrent aspiration pneumonia. A tracheostomy and gastrostomy were required; however, surgical intervention was not possible because of her short neck and complicated airway.
CONCLUSIONS: We compared this case with previous reports. The truncation group had more described phenotypes than the non-truncation group. The patient had the most severe respiratory dysfunction in truncating variant.
摘要：
背景：一种X连锁的ZC4H2变体与多种表型有关，这些表型具有与外部畸形和神经发育有关的异常。没有关于严重呼吸功能障碍的报道，由于这种疾病导致的畸形，无法进行手术治疗。在这里，我们报告了一名患有先天性多发性关节炎的女性，并伴有严重的呼吸道并发症。
方法：一个两岁的女孩在分娩时出现了先天性多发性关节炎，随后出现了张力减退和进食困难。通过全外显子组测序在她的基因组中鉴定出一种新的ZC4H2移码变体。八个月时,她患有复发性吸入性肺炎。需要气管造口术和胃造口术；然而，手术干预是不可能的，因为她的脖子短和复杂的气道。
结论：我们将此病例与以前的报告进行了比较。截断组比非截断组具有更多描述的表型。患者在截断变体中具有最严重的呼吸功能障碍。
方法：一个两岁的女孩在分娩时出现了先天性多发性关节炎，随后出现了张力减退和进食困难。通过全外显子组测序在她的基因组中鉴定出一种新的ZC4H2移码变体。八个月时,她患有复发性吸入性肺炎。需要气管造口术和胃造口术；然而，手术干预是不可能的，因为她的脖子短和复杂的气道。
结论：我们将此病例与以前的报告进行了比较。截断组比非截断组具有更多描述的表型。患者在截断变体中具有最严重的呼吸功能障碍。
