期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 65, 期 10, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2022.104592
关键词
EDS; Ehlers-Danlos Syndrome; Vascular EDS; vEDS; Amniotic band; ABS; EDS IV; Collagen
This study expands the current knowledge of the association between vEDS and ABS through a case series and literature review. The findings suggest that the disease status of the fetus, rather than maternal vEDS, is the main risk factor for ABS. It is recommended to consider family history and features suggestive of vEDS diagnosis in patients with ABS.
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.
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