患有 Schaaf-Yang 综合征的婴儿出现慢性肠道假性梗阻综合征和胃肠道旋转不良——扩大表型谱。
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum.
作者信息
Bayat Allan, Bayat Michael, Lozoya Ricardo, Schaaf Christian P
机构信息
Department of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark.
Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.
出版信息
Eur J Med Genet. 2018 Oct;61(10):627-630. doi: 10.1016/j.ejmg.2018.04.007. Epub 2018 Apr 13.
We report a novel patient with the phenotypic characteristics of Schaaf-Yang syndrome. In addition, the patient has a severe chronic digestive malfunction, rendering him dependent on intermittent enteral supplementation. To our knowledge, this is the first report of Schaaf-Yang syndrome associated with severe chronic digestive malfunction manifesting with both a malrotation and signs of a chronic intestinal pseudo-obstruction.
我们报告了一名具有 Schaaf-Yang 综合征表型特征的新型患者。此外，该患者患有严重的慢性消化功能障碍，导致他依赖间歇性肠内营养补充。据我们所知，这是首例 Schaaf-Yang 综合征与严重慢性消化功能障碍相关的报道，该消化功能障碍表现为旋转不良和慢性假性肠梗阻体征。
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