Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery. Issue 5 (13th March 2013)

• Record Type: Journal Article
• Authors: Solomons, Joyce; Coucke, Paul; Symoens, Sofie; Cohen, Marta C.; Pope, F. Michael; Wagner, Bart E.; Sobey, Glenda; Black, Rebecca; Cilliers, Deirdre
• Is Part Of: American journal of medical genetics. Volume 161:Issue 5(2013:May)
• Page Start: 1122
• Page End: 1125
• Publication Date: 2013-03-13
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35802
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35802-sec-0001" sec-type="section"> <p>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. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>