Imaging Findings in Osteogenesis Imperfecta

Autores

  • Matheus Dorigatti Soldatelli Department of Radiology, Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brazil.
  • Vanessa Döwich Department of Radiology, Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brazil.
  • Thaylla Maybe Bedinot da Conceição Department of Radiology, Hospital de Clínicas de Porto Alegre. Porto Alegre, RS, Brazil.
  • Têmis Maria Félix Department of Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.

Palavras-chave:

Osteogenesis imperfecta, pediatrics, radiology

Resumo

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

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Publicado

2017-09-29

Como Citar

1.
Dorigatti Soldatelli M, Döwich V, Maybe Bedinot da Conceição T, Maria Félix T. Imaging Findings in Osteogenesis Imperfecta. Clin Biomed Res [Internet]. 29º de setembro de 2017 [citado 28º de março de 2024];37(3). Disponível em: https://seer.ufrgs.br/index.php/hcpa/article/view/73847

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Relatos de Casos: Imagens em Medicina

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