Article
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.
European journal of pediatrics - 1 Mar 1990
Pendola F, Borrone C, Filocamo M, Lituania M, Steinmann B, Superti-Furga A
Abstract excerpt
Congenital osteogenesis imperfecta (OI) was diagnosed by ultrasound in a 31-week-old fetus, and the diagnosis confirmed after delivery by caesarean section at week 36. The baby survived the neonatal period, but failed to thrive, had recurrent respiratory infections and ultimately died at 8 months. Cultured fibroblasts synthesized both normal type I collagen and unstable type I collagen harbouring a structural...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
