Osteogenesis Imperfecta: Clinical Features and Management in a Developing Country

Abstract

Abstract Background: Osteogenesis imperfecta (OI) is a rare congenital disorder leading to increased bone fragility.

Objective: To describe the clinical spectrum of OI and report the Ivorian experience in managing this condition.

Settings: Yopougon and Treichville Teaching Hospitals and "Don Orione” Centre for the Crippled in Côte d'Ivoire.

Subjects and Methods: Fifteen OI patients (ten boys and five girls) aged seven days-six years (mean, 2.1 years) from 14 separate families were reviewed for demographics, genetic and clinical patterns, treatment required and outcome. Theywere classified using the criteria of Sillence with comparison to those of Maroteaux and treated depending on OI severity status, by oral preventive drugs, conservative and/or surgical means. All were assessed for fracture rate, functional abilities and ambulation levels.

Results: According to Sillence2 s classification, there were 8 type III, 2 type II and IV, 2 type I and 1 unclassified type which distribution following the criteria of Maroteaux showed 12 (80 percent) prenatal forms (8 severe, 2 regressive and 2 lethal) and 3 (20 percent) postnatal forms (2 generalized and 1 localized). Autosomal dominant inheritance was presumed in two sibs versus 13 private neomutations. In the prenatal group, two-thirds of cases sustained e”20 fractures requiring surgical management on eight occasions versus less than 10 fractures managed closely in other types. At a mean follow up of 5.3 years, one type II patient died perinatally but the other survived with major disabilities. Six type II patients had severe altered functions in which two were chair-bound, one type IV had a restricted ambulation level, and all type I cases had good outcome, while the rest were lost to follow up.

Conclusion: The clinical presentation of osteogenesis imperfecta appears to be classical in these Ivorian children.

Keywords: Osteogenesis imperfecta, child, Ivorian, genetic disease, treatment.