A case of atypical family form of imperfect osteogenesis (osteogenesis imperfecta)
نویسنده
چکیده
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 – IV – form of disease and in its baby the signs of more dangerous – II – type of the same disease were found.
منابع مشابه
Report of Four Cases of Osteogenesis
Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported. Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness. Recessive abnormal trait probably due to new mutation was the c...
متن کاملNext-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Background: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by...
متن کاملAssociation of Behçet’s Disease with Osteogenesis Imperfecta in A Ten-Year-Old Girl
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. In this article, we present a patient suffering from OI, who had concomitant active Behçet’s Disease(BD)with repeated oro-genital ulcers, skin postular eruptions and severe recurrent bilateral uveitis. This patient, is, to our knowledge the first reported case in ...
متن کاملOsteogenesis imperfecta/lobstein syndrome associated with dentinogenesis imperfecta.
Osteogenesis imperfecta is a collagen related disorder characterized by increased bone fragility and low bone mass. The important oral finding in osteogenesis imperfect is the presence of dentinogenesis imperfecta. This article presents a case of osteogenesis imperfecta (type IV B) with dentinogenesis imperfecta where a 7-year-old girl had opalacent primary teeth associated with severe bone def...
متن کاملاداره بیهوشی در بیمار مبتلا به استئوژنز ایمپرفکتای کاندید عمل جراحی پلاک گذاری ساق
ABSTRACT: Aims and background: Osteogenesis imperfecta is an authosomal dominant disease that almost always involve the connective tissues .The major problem in these patients is inability to synthesize collagen type -1, that leads to multiple long bone fractures. This case report is going to describe management of anesthesia in a patient with Osteogenesis imperfecta, who was scheduled fo...
متن کامل