Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

[dentinogenesis imperfecta]

Osteogenesis imperfecta (OI ) type I is a hereditary disorder of connective tissue (HDCT ) characterized by blue or gray sclerae , variable short stature , dentinogenesis imperfecta , hearing loss , and recurrent fractures from infancy . We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility . The diagnosis of a type I collagen disorder was confirmed by abnormal COL 1 A 1 or COL 1 A 2 gene sequencing . One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts , showing structurally abnormal collagen type I , skin biopsy showed unusual histology and abnormal collagen fibril ultra-structure at electron microscopy . The combined clinical , surgical , histological , ultra-structural , and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease . The degree of tissue fragility experienced at cardiac surgery in these individuals , also reported in a small number of similar case reports , suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery .

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Diseases presenting "and recurrent fractures from infancy" symptom

dentinogenesis imperfecta

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