Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

Allan Bayat; Michael Bayat; Ricardo Lozoya; Christian P Schaaf

doi:10.1016/j.ejmg.2018.04.007

Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

Eur J Med Genet. 2018 Oct;61(10):627-630. doi: 10.1016/j.ejmg.2018.04.007. Epub 2018 Apr 13.

Authors

Allan Bayat¹, Michael Bayat², Ricardo Lozoya³, Christian P Schaaf³

Affiliations

¹ Department of Pediatrics, University Hospital of Hvidovre, Hvidovre, Denmark. Electronic address: Bayabayabayat@hotmail.com.
² Department of Neurology, Aarhus University Hospital, Aarhus, Denmark.
³ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.

PMID: 29660409
DOI: 10.1016/j.ejmg.2018.04.007

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.

Keywords: Chronic digestive malfunction; Chronic intestinal pseudo-obstruction syndrome; MAGEL2; Malrotation; Schaaf-yang syndrome.

Publication types

Case Reports

MeSH terms

Developmental Disabilities / diagnosis*
Developmental Disabilities / genetics
Digestive System Abnormalities / diagnosis*
Digestive System Abnormalities / genetics
Humans
Infant
Male
Phenotype*
Proteins / genetics
Syndrome

Substances

MAGEL2 protein, human
Proteins