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 .

Diseases
Validation

Diseases presenting "skin fibroblasts" symptom

child syndrome

cowden syndrome

cystinuria

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

gm1 gangliosidosis

homocystinuria without methylmalonic aciduria

krabbe disease

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

pyruvate dehydrogenase deficiency

werner syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom