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Lookup NU author(s): Dr Paul Brennan
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© 2022. The association between vascular Ehlers-Danlos Syndrome (vEDS) and amniotic band sequence (ABS) has been previously reported in the literature, mostly in single patient case reports. Here, we aim to extend the current knowledge of this association through a case series of five unrelated individuals with ABS in association with molecularly confirmed vEDS, in addition to undertaking a comprehensive literature review. All the individuals were recruited through the EDS national diagnostic service in the UK following appropriate history, physical examination and genetic investigations. Clinical presentation ranged from a single constriction ring to complex craniofacial clefts to limb reduction deformities, reflecting the spectrum of ABS presentation. vEDS was inherited paternally (n = 2), maternally (n = 2) and de novo (n = 1). Previously, maternal vEDS was considered the risk factor for ABS, but our findings suggest that it may be the disease status of the fetus which poses the main risk. It is established that amniotic membrane is derived from fetal tissue, which supports our conclusions. Our observations suggest the increased risk of ABS in fetuses with vEDS. Therefore, exploring family history and features that may suggest vEDS diagnosis in patients with ABS might be useful. We also recommend that a collaborative international study would be useful to help gain a better insight into this association.
Author(s): Schirwani S, van Dijk FS, Cauldwell M, Harrison RE, Kraus A, Brennan P, Ghali N, Lahiri N, Johnson D, Sobey G
Publication type: Article
Publication status: Published
Journal: European Journal of Medical Genetics
Year: 2022
Volume: 65
Issue: 10
Print publication date: 01/10/2022
Online publication date: 12/08/2022
Acceptance date: 07/08/2022
ISSN (print): 1769-7212
ISSN (electronic): 1878-0849
Publisher: Elsevier Masson s.r.l.
URL: https://doi.org/10.1016/j.ejmg.2022.104592
DOI: 10.1016/j.ejmg.2022.104592
PubMed id: 35964932
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