ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses such as rickets. Imaging studies revealed characteristic skeletal abnormalities, including rachitic rosary‐like rib deformities and multiple fractures of varying ages. Genetic testing confirmed a Cartilage‐associated Protein (CRTAP) mutation, consistent with Type VII OI. This case underscores the diagnostic challenges posed by rare forms of OI, particularly in distinguishing them from other conditions with similar presentations. Early identification through imaging and genetic testing, followed by appropriate therapeutic interventions such as bisphosphonate therapy and orthopedic management, is crucial for improving patient outcomes. This report highlights the importance of considering OI in the differential diagnosis of pediatric patients presenting with fractures and skeletal deformities, even when initially evaluated for unrelated conditions.
Parviz et al. (Wed,) studied this question.