The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.

Abstract excerpt

The features of three babies with lethal perinatal osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen were studied. The babies were heterozygous for this substitution at residue 391 in case 1 (0I24), 667 in case 2 (0I51), and 976 in case 3 (0I30). They were all small, term babies who died soon after birth. The ribs were broad and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Infant, Newborn
• Share to Mutation