Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8962722 | European Journal of Medical Genetics | 2018 | 13 Pages |
Abstract
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.
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Authors
Allan Bayat, Michael Bayat, Ricardo Lozoya, Christian P. Schaaf,