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.


METHODS
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.


CONCLUSIONS
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.
Esaka
Emmanuel J
EJ
From the Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Allegheny General Hospital, Pittsburgh, Pennsylvania; and the Department of Obstetrics and Gynecology, Indiana Regional Medical Center, Indiana, Pennsylvania.
Golde
Steven H
SH
Stever
Michael R
MR
Thomas
Ronald L
RL
D000293:Adolescent; D017542:Aneurysm, Ruptured; D002585:Cesarean Section; D004211:Disseminated Intravascular Coagulation; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007083:Iliac Artery / Q000473:pathology; D007738:Kyphosis / Q000209:etiology; D010349:Patient Compliance; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology; D012422:Rupture, Spontaneous; D012600:Scoliosis / Q000209:etiology; D050497:Stillbirth