Perinatal Osteogenesis Imperfecta (probably type II) and Blue Sclerae of OI
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a set of disorders that involves the malformation or insufficient formation of collagen.
All types of this condition are genetic, and are present at birth. Types I through V are autosomal dominant, and Types VI through VII are autosomal recessive. Given the severity of types II and III, the fact that they’re autosomal dominant rarely comes into play.
Most variants of OI (but not type IV) display blue sclerae, which is one of the primary diagnostic criteria. X-rays showing multiple bone fractures in varying stages of healing are also common in OI, and the x-ray above shows many nodules where the ribs and arms have fractured during the antenatal period.
In the past, OI was often assumed to be rickets or osteomalacia, and in the modern era, child abuse is often suspected when symptoms aside from frequent fractures are not present.
A Text-Book of Pathology for Students of Medicine. J. George Adami and John McCrae, 1912.