Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by
the loss of bone density and mass, which increases the fragility of the bones, thus presenting …

Osteogenesis imperfecta (OI) is a clinically heterogeneous disorder characterised by
skeletal fragility and an increased fracture incidence. It occurs in approximately one in every …

Background Osteogenesis imperfecta is a rare connective tissue disorder of varying
phenotypic presentations. In pregnancies complicated by osteogenesis imperfecta, there is …

Transit neonatal hyperparathyroidism (TNHP) is a very rare recessive mutation in the
calcium channel transporter. TNHP is defined as an impairment of calcium transportation …

Osteogenesis imperfecta (OI) is a group of rare, permanent genetic bone disorders resulting
from the mutations in genes encoding type 1 collagen. It usually is inherited by an autosomal …

Osteogenesis imperfecta is considered a rare genetic condition which is characterized by
bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes …

Background Osteogenesis imperfecta (OI) is a genetic connective tissue disease defined by
the loss of bone mass and density, which makes the bones more brittle and more likely to …

Osteogenesis imperfecta (OI) is a hereditary disease of connective tissue characterized by
the loss of bone density and mass, which increases the fragility of the bones, thus presenting …

Osteogenesis imperfecta (OI) represents a group of rare connective tissue disorders
characterized by excessive bone fragility. Type 3 is a rare form with new mutations; …

We describe a three-year-old male child who presented to the pediatrics out-patient
department with a history of decrease in appetite, generalized weakness, on and off loose …