Also, kids presented with hydrops fetalis and / or EFE and / or cardiomyopathy have poor outcome.Some studies showed a genetic contribution to the autoimmune CHB.Among anti Ro/La positive women, older ones have higher possibility of having kids with heart block.Mortality rate in CHB increases with earlier deliveries.Kids with congenital heart block have higher chance to face health-related problems (such as infections) than other kids. Epidemiology
The congenital heart block occurs in 1 child in every 15,000 to 20,000 births.More than 90% of the cases are associated with autoimmune disease and transference of maternal autoantibodies.Without considering the gender, the age of diagnosis or the associated diseases, mortality rate is around 20%.
Pseudoachondroplasia
Pseudoachondroplasia is an osteochondrodysplasia made distinctive by disproportionate short stature, hip and knee deformities, brachydactyly (short fingers) and ligamentous laxity. It affects at least 1 in 20,000 individuals. Pseudoachondroplasia is inherited in an autosomal dominant manner and is caused solely by mutations in the cartilage oligomeric matrix protein COMP gene. It’s distinguished by a moderate to severe form of disproportionate short-limb short stature. The limb shortening is fundamentally confined to the proximal limb segments i.e. Femurs and humeri. A known presenting feature is a waddling gait, noticed at the onset of walking. A prompt diagnosis of a skeletal dysplasia in general and Pseudoachondroplasia in specific is still based upon a comprehensive clinical and radiographic correlation. A detailed radiographic examination of the axial and appendicular skeleton is invaluable for the differential diagnosis of Pseudoachondroplasia. Coxa vara (reduced neck shaft angle), broad femoral necks, short femurs and humeri, and bullet-shaped vertebrae are noticeable radiographic features. Additionally, the presence of metaphyseal broadening, cupping and dense line of ossification about the knee can simulate rachitic changes. These radiographic features are collectively known as rachitic-like changes. The presence of epiphyseal changes serves as an important differentiating feature from achondroplasia. Osteogenesis imperfecta
COL1A1/2-related osteogenesis imperfecta is inherited in an autosomal dominant manner. The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis imperfecta in the vast majority of perinatally lethal osteogenesis imperfecta, and progressively deforming osteogenesis imperfecta.