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.
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。