Anaesthetic Management in a Patient with Osteogenesis Imperfecta for Left Femur Nailing

Dr Uthkala B Hegde, Dr Janaki Vijayan

Abstract: Osteogenesis imperfecta (OI) is an inherited connective tissue disorder primarily affecting the bones, sclera, and inner ear, resulting from a mutation in the type I collagen gene. According to the Sillence classification, OI is categorized into four types: Type I: Inherited in an autosomal dominant (AD) pattern, typically characterized by mild bone fragility. Type II: Lethal either in utero or during the perinatal period. Types III & IV: Both are inherited in an autosomal dominant manner, with more severe manifestations than Type I. The skeletal abnormalities in OI arise from defective ossification of endochondral bone, leading to bone fragility, hypermobile joints, and kyphoscoliosis. The disorder may also involve multisystem complications, including cardiac valvular lesions, cor-pulmonale, neurologic abnormalities, hyperhidrosis, cleft palate, metabolic derangements, susceptibility to malignant and non-malignant hyperthermia, obstructive uropathy secondary to renal and ureteric calculi, and platelet dysfunction.

Keywords: Bone fragility, collagen mutation, autosomal dominant, osteogenesis imperfecta, skeletal abnormalities, multisystem complications