title: Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Oxford University Hospitals, Oxford, UK. joyce.solomons@gmail.com
authors.forename: Joyce
authors.initials: J
authors.lastname: Solomons
authors.forename: Paul
authors.initials: P
authors.lastname: Coucke
authors.forename: Sofie
authors.initials: S
authors.lastname: Symoens
authors.forename: Marta C
authors.initials: MC
authors.lastname: Cohen
authors.forename: F Michael
authors.initials: FM
authors.lastname: Pope
authors.forename: Bart E
authors.initials: BE
authors.lastname: Wagner
authors.forename: Glenda
authors.initials: G
authors.lastname: Sobey
authors.forename: Rebecca
authors.initials: R
authors.lastname: Black
authors.forename: Deirdre
authors.initials: D
authors.lastname: Cilliers
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071121:ADAMTS4 Protein; D036861:Delivery, Obstetric / Q000009:adverse effects*; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D046529:Microscopy, Electron, Transmission; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011348:Procollagen N-Endopeptidase / Q000235:genetics*; D012422:Rupture, Spontaneous / Q000150:complications*; D012887:Skull Fractures / Q000150:complications*
chemical_list: D051722:ADAM Proteins; D011348:Procollagen N-Endopeptidase; D000071121:ADAMTS4 Protein