Abstract

Introduction: Osteogenesis imperfecta (OI) is an autosomal dominant disorder that affects about 6-7/100,000 patients.
Case report: We describe a term neonate, with a supervised pregnancy and fetal ultrasonography at 23 weeks with bone dysplasia suspicion. Physical exam revealed axial hypotonia, increased anterior fontanel with distant cranial sutures and small and tapered nose. Skeletal radiography showed hypomineralization and wormian bones of cranial calotte, thin ribs and short and curved femurs. Genetic test revealed heterozygous variant of p.(Gly328Ser) in exon 19 of the COL1A2 gene, of the missense type. By 2 months of age, parents noticed unexplained left lower limb edema, associated with severe pain and crying, and he was diagnosed with aligned fracture of the left femur diaphysis.
Discussion: There are several genetic disorders and congenital defect conditions, such as OI, that have been associated with bone fragility and fractures that can be misdiagnosed as child abuse. possible. This case report highlights the importance of valuing infant’s bone fractures, especially if the fracture is unexplained and located in places like long bones of the arms and legs, ribs and small bones of the hands and feet.
Conclusion: Clinicians should always look for fragile bones and exclude causes such as OI. Never forget to exclude, as well, child abuse, as part of differential diagnosis.

Key words: osteogenesis imperfecta, unexplained fractures, bones, infant