What is a notable characteristic of Type 2 Osteogenesis Imperfecta?

Type 2 Osteogenesis Imperfecta (OI), also known as perinatal lethal osteogenesis imperfecta, is characterized by its severe and often lethal presentation. One of the most notable aspects of Type 2 OI is that it can lead to lethality in utero. This condition is caused by a significant defect in collagen formation, which is essential for the structural integrity of bones. Fetuses with Type 2 OI often present with multiple fractures even before birth, but the severity of the skeletal deformities and the resulting respiratory complications frequently lead to death shortly after birth or in utero.

In contrast, although blue sclera is an observable feature in several types of Osteogenesis Imperfecta, it is more commonly associated with Type 1 OI, which is milder. Multiple fractures and short stature can be characteristics of Type 2 OI, but in this specific type, the lethality and severe skeletal anomalies overshadow these features.