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Abstract
A 14 months -old male patient is brought to the outpatient clinic with a history of multiple bone fractures, he was born with fractures in left femur and humerus and presented 3 more fractures until the first consultation. There was no family history of genetic disorders and consanguinity. At physical examination, short stature for his age, discolored and translucent teeth, triangular face shape and bluish color of eye sclera were noticed. Initial radiographic studies of bones showed diffuse signs of osteoporosis, deformed limb bones and multiple long bone fractures with different ages. The radiograph of the skull showed small intra-sutural bones in between the cranial sutures, known as Wormian bones (figure 1). Diagnosis of osteogenesis imperfecta (OI) was confirmed and treatment with cyclic sodium pamidronate was started. At 3 years old a total of ten fractures were reported on tibias, femurs and proximal left humerus. The following radiographic studies showed the “zebra stripe sign” - sclerotic growth recovery lines in the metaphysis of long bones (figures 2 and 3). Palavras-chave: Osteogenesis imperfecta; pediatrics; radiology
Highlights
The diagnosis of osteogenesis imperfecta (OI) is typically made on the basis of personal and family medical history, physical examination, radiography and, in some cases, bone densitometry and DNA-based sequencing[2]
Despite having no pathognomonic features, conventional radiography still remains the mainstay in the diagnosis of OI
In the long bones, bending and thinning of the diaphysis may be complicated by fractures in the concave aspect of the deformity, the typical shepherd’s crook deformity of the femur and “saber shin” deformity of the tibia are described
Summary
The diagnosis of OI is typically made on the basis of personal and family medical history, physical examination, radiography and, in some cases, bone densitometry and DNA-based sequencing[2]. Despite having no pathognomonic features, conventional radiography still remains the mainstay in the diagnosis of OI.
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