Clinical and Medical Case Reports

Center of Endocrinology and Diabetes Mellitus, Al-Qunfudah General Hospital, Al-Qunfudah, Makkah Province, Saudi Arabia

Publications

• Research   
  A 12 Years Old Boy with Osteogenesis Imperfecta Type VI in South Western Saudi Arabia - A Case Report
  Author(s): Somaya Alzeylae, Thowiba Awad, Elnazeer Hussien, Mosad Odah, Ashraf Ewis* and Mohamed Elhefny
  
  Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and reduced bone mineralization density. The disorder is clinically and genetically heterogeneous. Here, we present a case of 12 years old boy who was presented to the pediatric emergency department of Al-Qunfudah general hospital at southwestern Saudi Arabia with multiple repeated fractures due to trivial trauma. He got his first fracture of the femur at the age of 6 years and within a short period, due to the multiple and repeated fractures that involved his long bones and vertebrae, he became handicapped, depending on a wheeled chair in his movement. Genetic testing confirmed that the boy has a homozygous pathogenic variant in the SERPINF1 gene, consistent with the genetic diagnosis of autosomal recessive OI type VI. Both parents showed the familial heterozygous pathogenic .. Read More»
  DOI: 10.37421/2684-4915.2022.6.205

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