Osteogenesis imperfecta: an atypical association

Osteogenesis imperfecta

Keywords Disease name and synonyms Definition/Diagnosis criteria Differential diagnosis Frequency Clinical description Etiology Diagnostic methods Management Treatment Genetic counselling References Abstract Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for varying degrees of skeletal fragility. Minimal trauma is sufficient to cause fractures and bone deformities. A ...

Osteogenesis imperfecta.

Our clinical files on osteogenesis imperfecta are brought up-to-date reviewing a total of 33,555 cases admitted between 4/XII/48 and 31/VIII/76. From these, 5 clinical cases were found. The extreme rareness of this regional pathology in our Cátedra y Sericio de Pediatría, which is the largest concentration center in Paraguay had led us to make this publication. From our casuistics, we may singl...

A case of atypical family form of imperfect osteogenesis (osteogenesis imperfecta)

This article presents an example of prenatal diagnosis of the IIA (lethal) form of imperfect osteogenesis during the second trimester screening examination. At the parents examination external signs of dysembryogenesis in the father are noticed. The further studying of the case allowed to draw the conclusions about the family form of imperfect osteogenesis when the father of a fetus had mild – ...

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...