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Region Hovedstaden - en del af Københavns Universitetshospital
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Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  • Allan Bayat
  • Michael Bayat
  • Ricardo Lozoya
  • Christian P Schaaf
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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.

OriginalsprogEngelsk
TidsskriftEuropean Journal of Medical Genetics
Vol/bind61
Udgave nummer10
ISSN1769-7212
DOI
StatusUdgivet - 1 sep. 2018

ID: 53670753