Article
A single-centre study of genetic mutations, audiology, echocardiogram and pulmonary function in Saudi children with osteogenesis imperfecta.
Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2022
Ahmad Noman, Aleysae Nabil Abdulrahman, Sobaihi MrougeMohamed, Naitah NisreenAbdulaziz, Rasol Mohammed Amin, Al-Kouatli Amjad Adnan, Almaghamsi Talal Mohammad, Heaphy Emily Lenore Goldman, Attiyah Meshal Hassan, Hrays MaymoonaAbdelmouz, Alghamdi Balgees, Alzahrani Ali Saeed
Abstract excerpt
OBJECTIVES: Osteogenesis imperfecta (OI) is a heterogeneous group of inherited connective tissue disorders, characterised by skeletal fragility. Patients with OI may also exhibit extra-skeletal features like blue or grey scleral colour, fragile skin, easy bruising, joint laxity, short stature, deafness, cardiac valve abnormalities and abnormal pulmonary function. The objective of this study is to describe genetic...
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