Surgical management of the patient with osteogenesis imperfecta.

Abstract

Osteogenesis imperfecta (01) is a disease involving defects of the connective tissue and metabolic abnormalities. Characteristically, patients with 01 exhibit long bone fractures and deformities, kyphoscoliosis with thoracic deformity, blue sclera, hernias, and opalescent dentin. The more severely involved patients are usually dwarfs with a unique facial appearance. The face is somewhat triangular, with bitemporal protrusions and a prominent frontal bone.1-3 When the stigmata of 01 are encountered, a complete differential diagnosis should be considered including scurvy, cleidocranial dysostosis, senile and idiopathic juvenile osteoporosis, achondroplasia, progeria, fetal ricketts, Mat-fan’s syndrome, and Ehlers-Danlos syndrome.‘r4 Patients with 01 have been classified into one of three different groups: 01 congenita, a severe involvement that occurs at birth and results in confinement to a wheelchair throughout life; 01 tarda I, a moderate involvement; and 01 tarda II, a mild involvement.5,6 The skeletal fractures and deformities that occur in patients of the 01 tarda I and II groups usually occur during childhood. The incidence of 01 (all groups) is two to four per 100,000 persons.3,6 The 01 tarda groups are thought to have an autosomal dominant inheritance pattern,‘-3,6-8 while the 01 congenita group is believed to be inherited through a rare recessive gene that is usually lethal in utero,9 or by a new dominant mutation.‘O The skeletal and connective tissue defects in 01 are attributed to a metabolic disorder in collagen formation. Sykes et al.” studied skin samples of patients with 01 tarda and showed an increased ratio of type III to type I collagen. Type I is the major collagen of bone; while type III collagen has been