Dermatosparaxis (Ehlers-Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

作者：Solomons Joyce^*; Coucke Paul; Symoens Sofie; Cohen Marta C; Pope F Michael; Wagner Bart E; Sobey Glenda; Black Rebecca; Cilliers Deirdre

来源：American Journal of Medical Genetics, Part A, 2013, 161A(5): 1122-1125.

DOI：10.1002/ajmg.a.35802

• dermatosparaxis
• Ehlers-Danlos syndrome
• ADAMTS2
• skull fracture
• premature rupture of membranes
• prenatal diagnosis

Dermatosparaxis Ehlers-Danlos syndrome (or EDS VIIC), a rare autosomal recessive connective tissue disorder, is characterized by extreme skin fragility, premature rupture of membranes in pregnancy, and spontaneous rupture of internal organs. Here we report a second patient with EDS VIIC presenting with congenital skull fractures and skin lacerations at birth, complications which may occur more frequently than previously thought in this condition. We also discuss the role of prenatal diagnosis in the management of a subsequent normal pregnancy.

• 出版日期2013-5