"Osteogenesis Imperfecta: Report of a new pedigree in Iran "

Abstract

Osteogenesis Imperfecta is a heterogeneous genetical disorder and is inherited as an autosomal dominant or autosomal recessive trait. The primary defect lies in the mutation of genes that encode type 1 collagen. Organs bearing connective tissue such as bone, sclera, inner ear, skin, ligaments, tendons, and fasciae are involved. With respect to clinical, biochemical and inheritance characteristics, this disorder is divided into 4 groups (OI I, OI II, OI III and OI IV). The clinical feature consists of mainly fragile bones with or without sclera and deafness. In report an 8-year old boy is presented with a pedigree suggesting an autosomal recessive type of inheritance in whom with respect to clinical feature, Osteogenesis type IIB is diagnosed.