BACKGROUND Varus or valgus deviations of the femoral neck in osteogenesis imperfecta have been an ignored chapter because the classic correction procedures were applied in medical practice with unsatisfying results. Until the use of telescopic rods, coronal deviations remained unsolved and the distal configuration of the proximal femoral extremity remained uncorrected or partially corrected, wh...

Osteoporosis is defined as 'too little normal bone', the disorder being rarer in children than adults. The varied forms in childhood can be classified as those secondary to some other disease and primary forms of the disorder which include the genetically determined osteogenesis imperfecta types and idiopathic forms of osteoporosis. A plea is made for greater clinical application in attempting ...

BACKGROUND To present a female child patient with osteogenesis imperfecta who had bilateral papilledema. CASE PRESENTATION A twelve-year-old girl with osteogenesis imperfecta was referred to our clinic. Bilateral best corrected visual acuity of the patient was 5/10 (corrected with +3.50 for right eye, +5.00 for left eye) with a standard Snellen scale at a distance of a 6 m. Anterior chamber, ...

Osteogenesis imperfecta (OI) is a genetic disease characterized by fragile bones, skeletal deformities and, in severe cases, prenatal death that affects more than 1 in 10,000 individuals. We report a case of a primigravida, a 24 yr old lady who presented in the emergency room of a secondary care hospital in Howrah, West Bengal, India (Silver Jubilee Matrisadan) at 36 weeks of gestation with bre...

Osteogenesis imperfecta is an inherited connective tissue disorder with wide phenotypic and molecular heterogeneity. A common issue associated with the molecular abnormality is a disturbance in bone matrix synthesis and homeostasis inducing bone fragility. In very early life, this can lead to multiple fractures and progressive bone deformities, including long bone bowing and scoliosis. Multidis...

A chemical cleavage method for detecting mismatched bases in heteroduplexes formed between patient mRNA and control cDNA probes was employed to identify a single base mutation in a heterozygous case of osteogenesis imperfecta type IV. The parents' fibroblast mRNA did not contain the mutation. The region of the mRNA mismatch was amplified by using the polymerase chain reaction, cloned and sequen...

BACKGROUND AND OBJECTIVES Osteogenesis Imperfecta is a rare condition, especially in obstetric patients. It has an estimated prevalence of 1/10,000 in the general population, and 1/25,000 to 30,000 in obstetric patients. The objective of this report was to present a rare case of a pregnant woman with Osteogenesis Imperfecta undergoing cesarean section. CASE REPORT This is a 23 years old gravi...

We have studied 166 patients from 71 families with Sillence type I osteogenesis imperfecta (dominant inheritance and blue sclerae). We confirm earlier findings that there are two subgroups, those with and those without dentinogenesis imperfecta; each family can be allocated to one or other group. Our confidence that the two groups represent distinct disorders is increased by finding that the pa...

Bowing of long bones may be secondary to several aetiologies. Among the causes for bowing of long bones include congenital and acquired form of rickets, skeletal dysplasia, osteogenesis imperfecta and renal tubular acidosis (RTA).

A case of osteogenesis imperfecta, presenting with bowed deformity of both forearm bones and dislocation of the radial head was treated by separate elongation of both bones using Ilizarov's external fixator.