TY - JOUR
T1 - Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome
T2 - Presentation of a rare manifestation and review of the literature
AU - Reinstein, Eyal
AU - Pimentel, Mark
AU - Pariani, Mitchel
AU - Nemec, Stephen
AU - Sokol, Thomas
AU - Rimoin, David L.
N1 - Funding Information:
None of the authors of the manuscript has declared any conflict of interest. Dr. Rimoin appreciated from the Steven Spielberg Pediatric Research Center , the NIH/NICHD Program Project Grant ( HD36657 ), the Medical Genetics NIH/NIGMS Training Program Grant ( 5-T32-GM08243 ), and the Cedars-Sinai General Clinical Research Center Grant ( M01-RR00425 ).
PY - 2012/10
Y1 - 2012/10
N2 - Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos syndrome.
AB - Gastrointestinal complications are common in patients with Ehlers-Danlos syndrome, affecting up to 50% of individuals depending on the subtype. The spectrum of gastrointestinal manifestations is broad and ranges from life threatening spontaneous perforation of the visceral organs to a more benign functional symptoms. Here we describe the clinical and radiographic manifestations of visceroptosis of the bowel, a rare complication of Ehlers-Danlos syndrome that is characterized by prolapse of abdominal organs below their natural position. We further review the literature on gastrointestinal complications in the different forms of Ehlers-Danlos syndrome.
KW - Ehlers-Danlos syndrome
KW - Gastrointestinal complications
KW - Hypermobility
KW - Visceroptosis of the bowel
UR - http://www.scopus.com/inward/record.url?scp=84866380228&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2012.06.012
DO - 10.1016/j.ejmg.2012.06.012
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 22781752
AN - SCOPUS:84866380228
SN - 1769-7212
VL - 55
SP - 548
EP - 551
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 10
ER -