RT Journal Article
SR Electronic
T1 Clinical presentations of Ehlers Danlos syndrome type IV.
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 1016
OP 1025
DO 10.1136/adc.63.9.1016
VO 63
IS 9
A1 F M Pope
A1 P Narcisi
A1 A C Nicholls
A1 M Liberman
A1 J W Oorthuys
YR 1988
UL http://adc.bmj.com/content/63/9/1016.abstract
AB 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.