Radiograph of the skull in an infant with osteogenesis imper | Figure 1

CincyKidsRad

Cincinnati Children's Radiology

Radiograph of the skull in an infant with osteogenesis imperfecta shows multiple Worman bones posteriorly (arrow) and a fracture of the C2 vertebral body (arrowhead). While nonaccidental trauma should always be considered in a young child with multiple fractures, in this case, the presence of multiple Wormian bones alerts as to the possibility that another entity may be present. Some of the more common entities associated with multiple Worman bones include osteogenesis imperfecta, rickets, cleidocranial dysostosis, hypothyroidism, hypophosphatasia, and Down syndrome. #FridayQuizDay #FridayQuiz

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Radiograph of the lower extremities in an infant with osteogenesis imperfecta shows abnormal bowing and broadening of the femurs, bowing of both tibia and fibula, and multiple growth recovery lines. Osteogenesis imperfecta is a brittle bone disease caused by a defect in type I collagen. There are multiple types of osteogenesis imperfecta. Depending on the type of osteogenesis imperfecta, symptoms may range from a mild increased incidence of fractures to lethal disease in the perinatal period. Blue sclera are only present in several subtypes.](https://app.figure1.com/case-detail/0224408c-b8e6-4173-aa35-b2a9831e2276)



AP radiograph of the lower extremities (image 1), femurs, (image 2), and tibia/fibula (image 3) in a adolescent with osteogenesis imperfecta show bowing, multiple growth recovery lines, and fracture (arrow) affecting the long bones. Osteogenesis imperfecta occurs as a result of just a defect in collagen type I production. Patients with osteogenesis imperfecta have brittle bones. Other signs can include blue sclera, dental abnormalities, and hearing loss. There are different types based on the severity and mode of inheritance.](https://app.figure1.com/case-detail/1b9b9428-431b-4de2-9dce-bedaf0833780)



A 24-year-old patient presented with chronic low back pain following a low-energy trauma having occurred while practicing sports. Past medical history was significant for a Colles fracture, and two childhood finger fractures. He did not consider the occurrences unusual or alarming and did not pursue further evaluation at that time. Otherwise, the patient was healthy with no history of smoking or drinking alcohol. He denied any previous chronic diseases and reported the intake of an adequate calcium diet. After a recent vertebral compression fracture and a second Colles fracture, he became worried, and sought medical care because of continued pain and functional loss. The patient's family history was also remarkable for osteoporosis and recurrent fractures in several relatives. On physical examination, the patient was below average height, and blue-gray sclera were observed. He had mild scoliosis and local tenderness in the lumbar spine. Imaging showed a compression fracture at L1 and severe osteoporosis for his age. Laboratory investigation ruled out a secondary cause of bone fragility. He was evaluated by a genetic specialist which led to a diagnosis of osteogenesis imperfecta. Family members were provided with genetic counseling. This case highlights the possibility of adult osteogenesis imperfecta presenting late when the patient is otherwise well and does not seek medical attention until multiple fractures occur.
Osteogenesis imperfecta is a genetically heterogeneous connective tissue disorder marked by bone fragility, skeletal deformities, and varying clinical severity due to mutations primarily affecting collagen type I synthesis, structure, and processing. Advances in gene discovery have revealed multiple dominant and recessive mechanisms, shifting disease classification and paving the way for more targeted diagnosis and therapeutic approaches.](https://app.figure1.com/case-detail/1e4637e8-ab2e-4f6c-a7ad-aae07aaa2dbc)



young kid with osteogenesis imperfecta, fell. Ended up with a mandibular and bilateral zygomatic fxs](https://app.figure1.com/case-detail/3daa9f96-a943-4b68-8c0a-7a4c393c5833)