Abstract
Osteogenesis imperfecta (OI) belongs to a group of congenital osteoporosis which hallmark feature is “affecting skeleton, increasing bone fragility that fracture easily and decreasing bone density due to quantitative and/or qualita-tive abnormalities”. We report a female sibling’s involvement in 3 cases with probable recessive inheritance pattern. Only female aged between 5 and 13 years were affected with skeletal lesions in the lower limbs. The boy of this family had no skeletal or extra-skeletal lesions. Their parents had no affection and no bond of consanguinity. The observed malformations can be classified as type V or VI according to Sillence’s clinical classification. Lack of genetic test in our context has limited accuracy of the diagnosis as new data evoke a genetic classification into 12 types that leading an effective therapeutic management.
Highlights
Osteogenesis imperfecta (OI), commonly called “brittle bone disease”, is a rare disorder of heterozygous connective tissue caused by mutations in genes that express collagen [1]
Osteogenesis imperfecta is characterized by decreased bone density, bone fragility and skin hyperlaxity
If we find a female predominance in our series, we cannot conclude that it is a genetic disease related to sex
Summary
Osteogenesis imperfecta (OI), commonly called “brittle bone disease”, is a rare disorder of heterozygous connective tissue caused by mutations in genes that express collagen [1]. The phenotype present is determined by mutation on the affected gene as well as type and location of that mu-. It is a genetic disorder characterized by occurrence of mutations in type 1 collagen gene [2]. In Burkina Faso, many cases of OI have been reported, but no family involvement has been found in literature. We report this female sibship occurrence based on three (3) cases with probable recessive inheritance pattern
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