title: Clinical presentations of Ehlers Danlos syndrome type IV.
abstract: Ehlers Danlos syndrome type IV is an often lethal disease caused by various mutations of type III collagen genes. It presents in infancy and childhood in several ways, and the symptoms and signs include low birth weight, prematurity, congenital dislocation of the hips, easy inappropriate bruising (sometimes suspected as child battering), and a diagnostic facial phenotype. These features predict a lethal adult disease often complicated by fatal arterial rupture in early or middle adult life. Most affected patients can be diagnosed from radiolabelled collagen protein profiles by polyacrylamide gel electrophoresis. Prenatal diagnosis by specific type III collagen restriction fragment length polymorphisms is possible in some families, and will become increasingly important. Prenatal diagnosis and prevention of the disease in selected families is already possible and will be widely available in the future.
authors.affiliation: Medical Research Council, Clinical Research Centre, Harrow.
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
authors.forename: P
authors.initials: P
authors.lastname: Narcisi
authors.forename: A C
authors.initials: AC
authors.lastname: Nicholls
authors.forename: M
authors.initials: M
authors.lastname: Liberman
authors.forename: J W
authors.initials: JW
authors.lastname: Oorthuys
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005149:Facial Expression; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male
chemical_list: D003094:Collagen