Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum
Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum
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DOI：
10.1016/j.ejmg.2018.04.007
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发表时间：
2018-10-01
影响因子：
1.9
通讯作者：
Schaaf, Christian P.
中科院分区：
文献类型：
--
作者：
Bayat, Allan;Bayat, Michael;Schaaf, Christian P.
我们报告了一名具有 Schaaf-Yang 综合征表型特征的新患者。此外，患者患有严重的慢性消化功能障碍，使其依赖间歇性肠内补充。据我们所知，这是首例与严重慢性消化功能障碍相关的 Schaaf-Yang 综合征的报告，表现为旋转不良和慢性肠假性梗阻的症状。
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.