objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.

OBJECTIVE Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients....

ABSTRACT Background: Osteogenesis imperfecta (OI) comprises a heterogeneous group of diseases characterized by susceptibility to bone fractures with variable severity and, in most cases, presumed or proven defects collagen type I biosynthesis and an estimated prevalence 1/15,000 births. Management is multidisciplinary involving mainly surgery, physiotherapy, rehabilitation Case Presentation: A ...

AIM The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. BACKGROUND Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as an autosomal dominant trait with va...

We describe two patients with osteogenesis imperfecta who developed transient osteoporosis in both hips sequentially.