PT  - JOURNAL ARTICLE
AU  - F M Pope
AU  - P Narcisi
AU  - A C Nicholls
AU  - M Liberman
AU  - J W Oorthuys
TI  - Clinical presentations of Ehlers Danlos syndrome type IV.
AID  - 10.1136/adc.63.9.1016
DP  - 1988 Sep 01
TA  - Archives of Disease in Childhood
PG  - 1016--1025
VI  - 63
IP  - 9
4099  - http://adc.bmj.com/content/63/9/1016.short
4100  - http://adc.bmj.com/content/63/9/1016.full
SO  - Arch Dis Child1988 Sep 01; 63
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.