Osteogenesis imperfecta is a heterogeneous group of connective tissue diseases that is predominantly characterized by bone fragility and skeletal deformity. Two siblings with undiagnosed type I osteogenesis imperfecta underwent orthognathic surgery for the treatment of facial asymmetry and mandibular prognathism. The authors report two cases of combined orthodontics and orthognathic surgery in patients with type I osteogenesis imperfecta, mandibular prognathism, and facial asymmetry.
Congenital Abnormalities ; Connective Tissue Diseases ; Facial Asymmetry ; Humans ; Orthodontics ; Orthognathic Surgery ; Osteogenesis Imperfecta ; Osteogenesis ; Prognathism ; Siblings

One-year-old male Persian cat presented with multiple fractures and no known traumatic history. Marked decrease of bone radiopacity and thin cortices of all long bones were identified on radiography. Tentative diagnosis was osteogenesis imperfecta, a congenital disorder characterized by fragile bone. To determine bone mineral density (BMD), quantitative computed tomography (QCT) was performed. The QCT results revealed a mean trabecular BMD of vertebral bodies of 149.9 ± 86.5 mg/cm³. After bisphosphonate therapy, BMD of the same site increased significantly (218.5 ± 117.1 mg/cm³, p < 0.05). QCT was a useful diagnostic tool to diagnose osteopenia and quantify response to medical treatment.
Animals ; Bone Density ; Bone Diseases, Metabolic ; Cats* ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diagnosis ; Fractures, Multiple ; Humans ; Male ; Osteogenesis Imperfecta ; Osteogenesis* ; Radiography

Osteogenesis imperfect (OI) is a generalized connective tissue disorder. We report the female neonate case with OI type III who showed severe bone deformities and fractures in utero. At birth, she showed multiple fractures in the clavicle, rib, femur, and wormian bone in the skull X-ray. We initiated pamidronate disodium infusion 30 mg/m2 in cycles of 3 consecutive days from when she was 4 days old, monthly for the first 3 months and every 2 months thereafter without adverse effects.
Bone Density ; Clavicle ; Congenital Abnormalities ; Connective Tissue ; Diphosphonates ; Female ; Femur ; Fractures, Bone ; Humans ; Infant ; Infant, Newborn ; Osteogenesis ; Osteogenesis Imperfecta ; Parturition ; Ribs ; Skull

Osteogenesis imperfect (OI) is a generalized connective tissue disorder. We report the female neonate case with OI type III who showed severe bone deformities and fractures in utero. At birth, she showed multiple fractures in the clavicle, rib, femur, and wormian bone in the skull X-ray. We initiated pamidronate disodium infusion 30 mg/m2 in cycles of 3 consecutive days from when she was 4 days old, monthly for the first 3 months and every 2 months thereafter without adverse effects.
Bone Density ; Clavicle ; Congenital Abnormalities ; Connective Tissue ; Diphosphonates ; Female ; Femur ; Fractures, Bone ; Humans ; Infant ; Infant, Newborn ; Osteogenesis ; Osteogenesis Imperfecta ; Parturition ; Ribs ; Skull

BACKGROUND: Osteogenesis imperfecta (OI) is a congenital disorder of type I collagen, with variable phenotypes, due to increased bone fragility and low bone mass. Previous pharmacological treatments for OI have been attempted with calcitonin and growth hormone but with little beneficial effects. Recently, Glorieux reported the beneficial effects of bisphosphonates in OI. METHODS: In this study, the effects of pamidronate treatment were evaluated in 9 patients with OI. All patients received intravenous pamidronate infusions, which was dose adjusted according to the patients' age. The outcome measures included the biochemical bone markers; serum alkaline phosphatase, urine deoxy-pyridinoline, urine Ca/Cr ratio, and bone mineral density (BMD). RESULTS: Serum alkaline phosphatase, urine deoxypyridinoline, and urine Ca/Cr ratio were slightly decreased after 1 year of therapy, although these changes were not statistically significant. The BMDs of the lumbar spine and proximal femur were significantly increased after 1-year of pamidronate treatment. No fractures were reported during the 1 year treatment periods. CONCLUSION: Pamidronate treatment had an effect on the BMD in osteogenesis imperfecta, probably due to decreasing bone resorption
Alkaline Phosphatase ; Bone Density ; Bone Resorption ; Calcitonin ; Collagen Type I ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Diphosphonates ; Femur ; Growth Hormone ; Humans ; Osteogenesis Imperfecta* ; Osteogenesis* ; Outcome Assessment (Health Care) ; Phenotype ; Spine

PURPOSE: The purpose of this study was to investigate the distribution of diseases and the orthopedic procedures performed in patients with genetic and metabolic bone diseases. MATERIALS AND METHODS: One hundred and fifty-three patients, who were admitted to the orthopedic ward under a diagnosis of genetic or metabolic bone disease from January 1990 to December 2000, were investigated. Their medical records, radiographs and laboratory data were reviewed, and orthopedic procedures analyzed. RESULTS: One hundred and fifty-one cases were diagnosed with specific diseases, while 2 remained unspecified. Achondroplasia, multiple epiphyseal dysplasia-pseudoachondroplasia and metaphyseal chondrodysplasia were common among the skeletal dysplasia cases. Hypophosphatemic rickets and osteogenesis imperfecta were common diseases among the metabolic and connective tissue categories. Limb lengthening was frequently performed in achondroplasia and in hypophosphatemic rickets, while deformity correction and hip surgery were frequent in multiple epiphyseal dysplasia - pseudoachondroplasia and metaphyseal chondrodysplasia. CONCLUSION: In genetic and metabolic bone diseases, only a limited number of clinical problems can be solved by orthopedic procedures. As new techniques are developed the pattern of orthopedic treatmen may change.
Achondroplasia ; Bone Diseases, Metabolic* ; Congenital Abnormalities ; Connective Tissue ; Diagnosis ; Extremities ; Hip ; Humans ; Medical Records ; Orthopedic Procedures ; Orthopedics* ; Osteochondrodysplasias ; Osteogenesis Imperfecta ; Rickets, Hypophosphatemic

The physeal injuries in children occur result of trauma, infection, metabolic or ischemic disease, and these conditions cause significant problems, such as growth disturbance, deformity and premature closure of physis. The authors experienced 7 cases of children who had angular deformity of knee and limb shortenings, but no history of obvious causes of physeal injury. All of these cases had severe osteoporosis and underlying disease, which were osteogenesis imperfecta, fibrous dyplasia and long term steroid therapy. The purpose of this study are evaluation of pathomechanism of physeal injuries in severe osteoporotic children. Patients were range of age from 4 to 9 years and had common clinical features, which were angular deformities of knee, limb shortening. Also they had common radiographic findings, that were severe porosis, metaphyseal sclerosis and in some cases, pop corn like calcification around physis. At this, we supposed that chronic mechanical stress in osteoporotic bone make physis be damaged due to loss of capillary circulation and this event appear to result from collapse of bone plate, through which epiphyseal vessel penetrate. In conclusion, the children with severe osteoporosis should be observed carefully about physeal injuries, which pathomechanism are perhaps deprivation of capillary circulation through bone plate. Therefore, We should try to protect bone plate by being conscious of its existence.
Bone Plates ; Capillaries ; Child ; Congenital Abnormalities ; Extremities ; Humans ; Knee ; Osteogenesis Imperfecta ; Osteoporosis* ; Sclerosis ; Stress, Mechanical ; Zea mays

Osteogenesis imperfecta is a heterogenous group of inherited disorder, which has abnormalities in the synthesis of collagen. Among variable clinical manifestations, orthopaedic clinical features are laxity of ligament and deformities arising from frequent fractures or angulation due to skeletal fragility. We had managed 4 cases of osteogensis imperfecta, which were belonged to type IV-B in two cases, type I-A in one, and type I-B in remained one by Sillence classification and they had suffered from recent fractures or deformities due to previous fractures in the long bones of the lower extremities. These patients had been treated with various types of intramedullary nails, such as Bailey-Dubow extensile rod. Rush rod and Kuntcher nail, and the result of intramedullary nailing lead to improvement of walking ability.
Classification ; Collagen ; Congenital Abnormalities ; Fracture Fixation, Intramedullary ; Humans ; Ligaments ; Lower Extremity ; Osteogenesis Imperfecta ; Osteogenesis ; Walking

Osteogenesis imperfecta is a hereditary condition characterized by fragility of bone, deafness, blue sclera, laxity of joints and a tendency to improvement with age. Authors experienced osteogenesis imperfecta that develped over 3 generations in one pedigree. A 28 years old female exhibited severe anterior bowing deformity of left tibia. She has a past history of many times of bone fractures. She was treated with corrective osteotomy, plate fixation for correction of bowing deformity of left tibia and medullary nailing with fibular graft for paeudarthrosis of Rt. forearm bone.
Congenital Abnormalities ; Deafness ; Family Characteristics ; Female ; Forearm ; Fractures, Bone ; Humans ; Joints ; Osteogenesis Imperfecta ; Osteogenesis ; Osteotomy ; Pedigree ; Sclera ; Tibia ; Transplants

Three children with osteogenesis imperfecta who were treated with fragmentation, realignment and intramedullary rod fixation (Sofield and Millar, 1959) have been followed up for considerable period. Repeated fractures in other sites as well as deformities occurred in overgrown part as the children grew up necessitated further operations of same kind. However, level of activity afterwards was found very much enhanced by the operations in general.
Child ; Congenital Abnormalities ; Humans ; Osteogenesis Imperfecta ; Osteogenesis