Lethal osteogenesis imperfecta.

Lethal osteogenesis imperfecta.

Perinatal lethal osteogenesis imperfecta.

Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively. Point mutations resulting in the substitution of Gly residues in Gly-X-Y amino acid triplets of the triple helical domain of the alpha 1(I) or alpha 2(I) chains are the most frequent mutations. They int...

Collagen defects in lethal perinatal osteogenesis imperfecta.

Quantitative and qualitative abnormalities of collagen were observed in tissues and fibroblast cultures from 17 consecutive cases of lethal perinatal osteogenesis imperfecta (OI). The content of type I collagen was reduced in OI dermis and bone and the content of type III collagen was also reduced in the dermis. Normal bone contained 99.3% type I and 0.7% type V collagen whereas OI bone contain...

Osteogenesis imperfecta (lethal) bones contain types III and V collagens.

Lethal osteogenesis imperfecta (OI-L) and normal fetal bones contain types I and V collagen with relatively more type V in OI-L bones. The latter, unlike normal fetal bone, also contain some type III collagen. Such altered collagen ratios could directly produce the bony fragility and radiotranslucency of OI-L bones. Since this is an inherited osteoporosis similar alterations in acquired osteopo...

Perinatal lethal type II osteogenesis imperfecta: a case report

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presen...