An Osteogenesis Imperfecta Type II A in a Female Newborn: A Case Report

Osteogenesis Imperfecta (OI) is characterized primarily by liability to fractures. It is a clinically and genetically heterogeneous connective tissue disorder. Osteogenesis imperfecta type 2 is the lethal type of OI and is often caused by a heterozygous mutation in either the COL1A1 or the COL1A2 gene. We report a newborn with osteogenesis imperfecta type IIA and discuss the differential diagnoseis which consist of other lethal skeletal dysplasias. Principal clinical manifestations of this patient are remarkable soft and large cranium and short-curved limbs. Radiologically, undermineralization of skull, platyspondyly, severely short and deformed long bones and, also small continuously beaded ribs, which is pathognomonic for OI type 2A, were observed. Considering the clinical/radiological manifestations, a diagnosis of osteogenesis imperfecta type IIA was made. In conclusion; carefully clinical and radiological and clinical evaluations identifies very rare hereditary abnormalities like osteogenesis imperfecta type 2A.