INTRODUCTION: Osteogenesis imperfecta presents with a set of constitutional disorders of varying severity, genetically determined and characterized by an abnormal production of collagen and matrix of the bone leading to bone fragility responsible for multiple fractures and many skeletal deformities. The aim of our study was to analyze the clinical and radiological aspects of the pathology. PATIENTS AND METHODS: This was a retrospective study of 10 cases of children with osteogenesis imperfecta who consulted the Pediatric Surgery Unit of the University Center Aristide Le Dantec Hospital over a period of 6 years. The parameters analyzed were the reasons for consultation, physical examination findings and findings on standard radiographs. After collecting all the data, children were divided according to the classification of Silence and Glorieux. RESULTS: Pain was the reason for consultation in eight children. The saber blade deformity of the legs was found in nine children. Physical examination found tenderness in 80% of cases. Blue sclera was found in one child. The teeth were normal in eight patients. Standard radiographs showed an osteopenic skeleton with multiple fractures (3.7 fractures on the average) associated with vicious callus formation and deformity. According to the classification of Silence and Glorieux, six children were type VI, two children type IV, a child type III and one type I. CONCLUSION: Osteogenesis imperfecta is a rare disease. In our environment, the diagnosis is made late - a stage associated with deformity. Of these, the occurrence of sabber deformity of the lower limbs is the most common. Radiological aspects are dominated by vicious callus formation, deformed bones and osteopenia. Moderate forms are predominant. Parents need to be educated about the risk of repeat fractures and the need to present deformed children to hospital early.
INTRODUCTION:Osteogenesis imperfecta presents with a set of constitutional disorders of varying severity, genetically determined and characterized by an abnormal production of collagen and matrix of the bone leading to bone fragility responsible for multiple fractures and many skeletal deformities. The aim of our study was to analyze the clinical and radiological aspects of the pathology. PATIENTS AND METHODS: This was a retrospective study of 10 cases of children with osteogenesis imperfecta who consulted the Pediatric Surgery Unit of the University Center Aristide Le Dantec Hospital over a period of 6 years. The parameters analyzed were the reasons for consultation, physical examination findings and findings on standard radiographs. After collecting all the data, children were divided according to the classification of Silence and Glorieux. RESULTS:Pain was the reason for consultation in eight children. The saber blade deformity of the legs was found in nine children. Physical examination found tenderness in 80% of cases. Blue sclera was found in one child. The teeth were normal in eight patients. Standard radiographs showed an osteopenic skeleton with multiple fractures (3.7 fractures on the average) associated with vicious callus formation and deformity. According to the classification of Silence and Glorieux, six children were type VI, two children type IV, a child type III and one type I. CONCLUSION:Osteogenesis imperfecta is a rare disease. In our environment, the diagnosis is made late - a stage associated with deformity. Of these, the occurrence of sabber deformity of the lower limbs is the most common. Radiological aspects are dominated by vicious callus formation, deformed bones and osteopenia. Moderate forms are predominant. Parents need to be educated about the risk of repeat fractures and the need to present deformed children to hospital early.
Entities:
Keywords:
Dakar; Deformities; Late diagnosis; Moderate forms; Osteogenesis imperfecta; Senegal
Authors: F H Glorieux; F Rauch; H Plotkin; L Ward; R Travers; P Roughley; L Lalic; D F Glorieux; F Fassier; N J Bishop Journal: J Bone Miner Res Date: 2000-09 Impact factor: 6.741