Osteogenesis imperfecta (OI) is a group of disorders characterized by osteopenia, fractures, short statures, bone deformity, blue sclera and hyper laxity of ligaments and skin, with a prevalence 6-7 per 100 000 individuals. There are four main kinds of OI with type II being the most severe; it is inherited in an autosomal recessive pattern with prenatally lethally deforming OI with multiple congenital fractures, micromelia and severe lung disease. OI could be caused by mutations in COL1A1 (Collagen Type 1, Alpha 1) or COL1A2 (Collagen Type 1, Alpha 2) with pathogenesis related to quantitative or qualitative abnormalities of type I collagen. Prenatal diagnosis for at risk pregnancies by fetal ultrasonography in the early 2ndTrimester is possible and it enables care.
a twentyyear old Syrian woman reported that she could no longer feel her fetal movement during the second trimester of her f irst pregnancy, no fetal pulse was registered on fetal ECG (electrocardiogram). The absence of the fetus heart activity led to abortion and stillbirth due to respiratory failure. The aborted fetus had multiple bone fractures and severe limb malformations, blue sclera as well as clubfoot. All of the above led to clinically diagnosing Osteogenesis imperfecta type II. The patient did not have a family history of similar cases.
Osteogenesis imperfecta (OI) is a rare inherited bone disease, with many different types ranging from perinatal lethality to individuals with severe skeletal deformities and multiple fractures to nearly asymptomatic individuals with mild predisposition to fractures and normal life span. There are many difficulties facing healthcare professionals in diagnosing OI over other skeletal dysplasia. OI type II is a severe form with early fatal skeletal defects, thus early prenatal sonographic diagnosis is possible. It is important to recognize that it can be difficult to distinguish between severe OI and other lethal skeletal dysplasias such as campomelic dysplasia or thanatophoric dysplasia. The primary tool for prenatal screening and diagnosis of skeletal dysplasias is ultrasonography, but a precise diagnosis cannot be made in many times. Infants with OI type IIA have very short curved limbs, long bones fractures, small chest and blue or gray sclera.
MedDocs Publishers LLC.
2023.