Article
Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family.
American journal of medical genetics. Part A - 1 Feb 2017
Baas Annette F, Spiering Wilko, Moll Frans L, Page-Christiaens Lieve, Beenakkers Ingrid C M, Dooijes Dennis, Vonken Evert-Jan P A, van der Smagt Jasper J, Knoers Nine V, Koenen Steven V, van Herwaarden Joost A, Sieswerda Gertjan Tj
Abstract excerpt
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe...
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