Name
OSTEOGENESIS IMPERFECTA
DESCRIPTION
DETAIL
D.D. : - BATTERED CHILD SYNDROME - NUTRITIONAL DEFICIENCIES - MALIGNANCIES - CHONDRODYSPLASIAS - HYPOPHOSPHATASIAOTHER TESTS : * X-RAY FINDINGS - BONE MINERAL DENSITY IS DECREASED. * IN EARLY CASE SKULL MOTTLED APPEARANCE BECAUSE OF SMALL ISLANDS OF IRREGULAR OSSIFICATION. * IN SEVERE CASE - BONES & OTHER CONNECTIVE TISSUES ARE SO FRAGILE THAT MASSIVE FRACTURE TAKE PLACE IN UTERO ITSELF. OSSIFICATION OF MANY BONES IS INCOMPLETE. * SKIN BIOPSY - TO DETERMINE THE AMOUNT OF COLLAGEN PRESENT & ITS STRUCTURE * GENETIC TESTING FOR COL1A1 OR COL1A2 -- 90% SENSITIVE
TYPENOTES
- BISPHOSPHONATES CAN REDUCE FRACTURE RISKS - BETA BLOCKERS HAS BEEN ADVOCATED TO SLOW PROGRESSION OF AORTIC ROOT DILATION ( AS IN MARFAN SYNDROME ) - HYPERTENSION SHOULD BE TREATED SURGERY : - SURGICAL THERAPY FOR VALVULAR DISORDER CARRIES HIGHER RISK. - AORTIC VALVE REPLACEMENT CAN BE UNDERTAKEN AT APPROPRIATE TIME. - MAY BE COMPLICATED BY BLEEDING PROBLEM SECONDARY TO PLATELET DYSFUNCTION & CAPILLARY FRAGILITY & POOR WOUND HEALING OF FRIABLE TISSUE DUE TO UNDERLYING COLLAGEN DEFECT.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
SERUM CALCIUM, COMPLETE BLOOD COUNT, BONE DENSITOMETRY, SERUM PHOSPHORUS, X-RAY, BIOPSY