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Case Reports
. 2009 Feb;113(2 Pt 2):515-518.
doi: 10.1097/AOG.0b013e3181898cbf.

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome

Emmanuel J Esaka  1 , Steven H Golde, Michael R Stever, Ronald L Thomas
Affiliations
Case Reports

A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome

Emmanuel J Esaka et al. Obstet Gynecol. 2009 Feb.

Abstract

Background: Ehlers-Danlos syndrome is a group of inherited connective tissue diseases demonstrating autosomal-dominant, autosomal-recessive, and X-linked inheritance patterns. The diagnosis can be established by clinical, biochemical, and genetic findings.

Case: Our nulliparous patient presented with an unspecified diagnosis of Ehlers-Danlos syndrome. Laboratory testing confirmed the kyphoscoliotic type. Based on clinical and phenotypic similarities with the vascular type of Ehlers-Danlos syndrome, termination was advised. Minor trauma in the third trimester led to delivery of a stillborn fetus, which was followed by disseminated intravascular coagulopathy and death of the mother. Maternal autopsy revealed that there had been a spontaneous rupture of the right iliac artery.

Conclusion: Practitioners should be aggressive in recommending effective birth control in patients with the kyphoscoliotic form of Ehlers-Danlos syndrome. In cases of established pregnancy, patients should be made fully aware of their risks of death and severe complications.

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