CASE REPORTS
JOURNAL ARTICLE
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A maternal and perinatal mortality in pregnancy complicated by the kyphoscoliotic form of Ehlers-Danlos syndrome.

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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