Osteogenesis Imperfecta Type VIII: A Call for Genetic Testing and Early Intervention
Introduction Osteogenesis imperfecta (OI) type VIII is a rare autosomal-recessive disorder characterized by white sclerae, severe growth deficiency, extreme skeletal under-mineralization, and bulbous metaphysis.1 Despite its prevalence of approximately 1 in 10,000–20,000 births, genetic testing for confirmation is often overlooked, and the diagnosis relies solely on clinical features.2 The reported case emphasizes the need for increased genetic testing to …
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