Also, a fetal ultrasound may detect birth defects that can be associated with the syndrome. Those may include cystic hygroma (fluid-filled bump on the baby’s neck), heart defects, kidney ...

They may be isolated or occur in association with other structural anomalies and in some cases are presenting with an increased nuchal translucency or cystic hygroma. Their significance and the ...

Without getting bogged down in detail, this open-source AI is reported to deliver the same performance as models from other companies, such as OpenAI, but at a far lower cost. In other words ...

Sophie Pierce will be the first person with cystic fibrosis to do just that ... pancreas’ ability to create enzymes needed to break down food. Being underweight and malnourished is a common ...

Since the 1980s, the average life expectancy of a person with Down’s syndrome has more than doubled, from less than 30 to well into their 60s. Living longer, though, has revealed a tragic twist ...

Queensland detectives are investigating the 2023 death of a 56-year-old NDIS recipient. Isaac Oar weighed 29 kilograms when he was pronounced dead after being found in his home south of Townsville.

Introduction: Campomelic dysplasia (CD) is a rare autosomal dominant skeletal malformation syndrome characterized by shortness and bowing of the lower ... Case presentation: We present a single case ...

Prenatal testing for Down syndrome can help you understand your baby’s development before birth and provide information to guide your pregnancy journey. Read on to learn more about prenatal ...

Down syndrome (DS) is the most common genetic syndrome associated with immune defects. The extent of immune dysregulation in DS is substantial, spanning the innate and adaptive systems and including ...

Medically, this is called subluxation of the midtarsal joint. Specifically, cuboid syndrome develops when the cuboid bone moves down and out of alignment with the other bone in the joint ...

Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of congenital heart defects (CHD), yet the genetic and mechanistic causes of these defects remain unknown ...