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Dermatosparaxis ( E hlers– D anlos Type VIIC ): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery
Author(s) -
Solomons Joyce,
Coucke Paul,
Symoens Sofie,
Cohen Marta C.,
Pope F. Michael,
Wagner Bart E.,
Sobey Glenda,
Black Rebecca,
Cilliers Deirdre
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35802
Subject(s) - pregnancy , medicine , skull , amniotic fluid , preterm delivery , connective tissue disorder , connective tissue , obstetrics , fetus , surgery , pathology , biology , genetics
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.