Fibrogenesis Imperfecta Ossium: Clinical Approach to Diagnosis and Management of a Rare Skeletal Disorder.

CONCLUSION: The dearth of information on FIO and low index of suspicion may lead to delayed or missed diagnoses and management. The fundamental skeletal defect appears to be an abnormality in organic matrix of bone characterized by defective mineralization of the abnormal collagen. Research focused on the identification of pathogenetic factors is needed. Albeit, long-term outcomes of growth hormone therapy are yet to be ascertained, short-term effectiveness appears promising. PMID: 30869792 [PubMed - as supplied by publisher]
Source: The Journal of Clinical Endocrinology and Metabolism - Category: Endocrinology Authors: Tags: J Clin Endocrinol Metab Source Type: research