The detailed clinical features and progress of a child with homozygous 22(I) collagen deficiency are described. Clinically, the disease presents as severe progressive Sillence type IlI osteogenesis imperfecta. The main biochemical defect is the synthesis of an abnormal pro 22(I) chain which does not associate with pro a I(I) chains and therefore is not incorporated into triple helical trimers of type I procollagen which can be used to assemble collagen fibres.
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