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Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: Presentation of a rare manifestation and review of the literature
被引:25
|作者:
Reinstein, Eyal
[1
]
Pimentel, Mark
[2
]
Pariani, Mitchel
[1
]
Nemec, Stephen
[1
]
Sokol, Thomas
[3
]
Rimoin, David L.
[1
]
机构:
[1] Cedars Sinai Med Ctr, Inst Med Genet, Los Angeles, CA 90048 USA
[2] Cedars Sinai Med Ctr, Gastrointestinal Motil Program, Los Angeles, CA 90048 USA
[3] Cedars Sinai Med Ctr, Div Colorectal Surg, Los Angeles, CA 90048 USA
关键词:
Ehlers-Danlos syndrome;
Visceroptosis of the bowel;
Gastrointestinal complications;
Hypermobility;
DIAPHRAGMATIC-HERNIA;
DELINEATION;
PATIENT;
RUPTURE;
FEATURES;
DISEASE;
IV;
D O I:
10.1016/j.ejmg.2012.06.012
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
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. (C) 2012 Elsevier Masson SAS. All rights reserved.
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页码:548 / 551
页数:4
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