Early Motor Delay: An Outstanding, Initial Sign of Osteogenesis Imperfecta Type 1

Osteogenesis imperfect (OI) is a heterogeneous and complex connective tissue disorder that manifests with low bone density and fragility. More than 15 types of OI have been distinguished on a clinical and molecular basis, but the classical clinical classification previously proposed in Types 1-4 with the recent inclusion of Type 5 appears to be more suitable. The diagnosis is mainly made on clinical and radiographic findings with fractures caused by mild trauma, bowing deformities of long bones, and growth deficiency. Non-skeletal features of the disorder include blue sclerae, hearing loss, decreased pulmonary function, cardiac valvular regurgitation, and muscle weakness.