Osteogenesis imperfecta (OI) is the most prevalent heritable bone fragility disorder in
children. It has been known for three decades that the majority of individuals with OI have …

Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and
includes a heterogenous group of genetic disorders which most commonly result from …

Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility,
low bone mass, and bone deformities. The majority of cases are caused by autosomal …

Vitamin D affects several body functions, and thus general health, due to its pleiotropic
activity. It plays a key role in bone metabolism, and its deficiency impacts bone development …

Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited skeletal dysplasias
characterized by bone fragility. The study of bone metabolism, in these disease, is …

Bruck syndrome is a rare collagen disorder with autosomal recessive inheritance caused by
pathogenic variants in either FKBP10 or PLOD2 genes. It is characterized by bone fragility …

Purpose Skeletal dysplasia are heterogeneous conditions affecting the skeleton. Common
nutrition issues include feeding difficulties, obesity, and metabolic complications. This …

Backround Osteogenesis imperfecta (OI) is a frequent bone fragility disorder in children. The
purpose of this study was to assess the BMD and Vitamin D level in children with OI in …

The aim of this study was to evaluate the association of contractures, fractures, and
deformities in four patients with Bruck syndrome treated in our facility. Data were collected …