Himakhun Wanwisa, Rojnueangnit Kitiwan, Prachukthum Sariya
Department of Pathology, Faculty of Medicine, Thammasat University, Pathumthani, Thailand.
J Med Assoc Thai. 2012 Jan;95 Suppl 1:S190-4.
Osteogenesis imperfecta (OI) is an inherited disorder of type I collagen synthesis with an estimate incidence of I in 100,000 live births. Among all types, OI type II is the most severe type with perinatal death. The authors describes a male neonate with characteristic features of osteogenesis imperfect type II, including short crumpling limbs, beaded ribs, poorly bony ossification and blue sclera. Autopsy with histological study revealed not only multiple fractures, but pulmonary hypoplasia and intracerebral hemorrhages were also present. Both are the leading causes of death in the lethal type OI patients.
