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American Journal of Medical Genetics Part A
Article . 2013 . Peer-reviewed
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Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type

Authors: Dordoni, Chiara; RITELLI, Marco Giuseppe; VENTURINI, Marina; CHIARELLI, Nicola; PEZZANI, LIDIA; VASCELLARO, ANNALISA; CALZAVARA PINTON, Piergiacomo; +1 Authors

Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type

Abstract

AbstractVisceroptosis is described in several heritable connective tissue disorders, including the hypermobility type of Ehlers–Danlos syndrome (hEDS), a.k.a. joint hypermobility syndrome (JHS). Clinical features of hEDS comprise joint hypermobility, mild skin hyperextensibility, joint instability complications, chronic joint/limb pain, and positive family history. Uterine and rectal prolapse has been reported in nulliparous women. We report on a family with two patients with hEDS. The proposita, a 38‐year‐old woman, present bilateral kidney prolapse requiring three nephropexies, gastric ptosis treated with gastropexy and Billroth I gastrectomy, and liver prolapse treated with a non‐codified hepatopexy procedure. Radiological evaluation also showed ovarian and heart prolapse. To our knowledge this is the first case of multiple visceral ptoses in hEDS. Visceral prolapse may lead to severe morbidity, affecting quality of life and a high rate of relapses after surgical procedures. Further investigations are needed to understand the molecular basis of the disease and retrospective studies on surgical outcomes, presentation of case series can be effective in order to offer a better treatment and prevention for hEDS patients. © 2013 Wiley Periodicals, Inc.

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Keywords

Adult, Male, Visceral Prolapse, Prognosis, Treatment Outcome, Recurrence, Humans, Ehlers-Danlos Syndrome, Female, visceroptosis; Ehlers-Danlos syndrome hypermobility type; connective tissue disorder, Aged

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    influence
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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
21
Average
Top 10%
Top 10%
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