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

The authors experienced a newborn infant of Osteogenesis imperfecta. Patient is characterized by multiple fracture of bone, blue sclera, and deformity of long bone. The review of literature was made briefly.
Congenital Abnormalities ; Humans ; Infant, Newborn ; Osteogenesis Imperfecta ; Osteogenesis* ; Sclera

Recently, five cases of osteogenesis imperfecta have been observed at Severance Hospital, Yonsei University. Two newborn females, two female children (one year and eight months, five years and a male child (five years and four months) were typical examples with multiple bone fractures, blue sclerae, and deformity of extremities. The mother of case 3 has also had blue sclera but no history of bone fracture. In case 1, a chromosome study was done because the infant had a short neck, low set ears and a high arched palate besides typical signs of steogenesis imperfecta of which result was found as normal karyotype. In case 3, the patient also presented the rachitic changes of the long bones and ribs and exhibited congenital agenesis of the right kidney. In case 4, the blue sclera was questionable. Three cases on1y have been reported prior to this study in Korea. We are presenting another five cases of osteogenesis imperfecta congenita, its pathology and a brief review of the literature.
Child, Preschool ; Female ; Human ; Infant, Newborn ; Karyotyping ; Male ; Osteogenesis Imperfecta/congenital* ; Osteogenesis Imperfecta/genetics ; Osteogenesis Imperfecta/radiography

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

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 rare affection characterized by fragility of the bones, blue sclerae, and deafness, less frequently by hypermobility of the joints. The etiology is unknown, but it appears to be a mesenchymaldefect. A cases of osteogencesis imperfecta (tarda form) in a 18 yesrs old male is presented with a review of the literatures. The chief complaints were bowing deformity of the all extremites and blue sclera. In this cases, other typical features such as deafness and hypermobility of the joints were not observed. X-ray showed multiple malunited fraeture, of all long bones of extremities except Ieft humerus. For the treatment of bowing deformity of right humerus, multiple corrective osteotomy and intramedullary nailing was performed and the result was good.
Congenital Abnormalities ; Deafness ; Extremities ; Fracture Fixation, Intramedullary ; Humans ; Humerus ; Joints ; Male ; Osteogenesis Imperfecta ; Osteogenesis ; Osteotomy ; Sclera

Two cases of congenital osteogenesis imperfecta were presented with review of literatures. Summary of the two cases were as follows; Case I:A 22day old female newborn has had problems of curved both thigh, short extreremities and irritability following manipulations since birth. Roentgenographical study showed multiple deformities at skull, spine, ribs and abnormal healing process/ Case II: A 5 month old male infant has had problems of growth retardation and limitation of movemenrs of the lower estremities since birth. He had blue sclera and both inguinal hernia. His bone X-ray findings were similar, but severe than cause I. Laboratory data of both cases were within normal limits.
Congenital Abnormalities ; Female ; Hernia, Inguinal ; Humans ; Infant ; Infant, Newborn ; Male ; Osteogenesis Imperfecta* ; Osteogenesis* ; Parturition ; Ribs ; Sclera ; Skull ; Spine ; Thigh

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

Two cases report on osteogenesis imperfecta tarda and review of literature has been made. The rare genetic disorder, osteogenesis imperfecta tarda is familiar to most orthopedic surgeons because of management of fracture and skeletal deformities, espicially bowing of long bone. Its clinical manifestations are known as bony fragility, blue sclera and deafness less frequently ligamentous laxity but its etiological factor is obscure; The basic defect is thought to involvement some abnormality of collagen. Recently the bony weakness caused by increased bony turnover rate. One case of osteogenesis imberrfecta tarda in 8 year old male was belonged to tarda type 1. (Falvo-classification), who could not walk due to marked anterolateral bowing of right tibia and the another to tarda type II. in 13 year old male with fresh fracture of right femoral shaft. The former was performed corrective multible osteotomy, realignment and intramedullary rod fixation for correction of bowing deformity of right tibia, and the later was managed the fracture of right femoral shaft with Russels traction and hip spica cast. The result of reported therapeutic mesure was good.
Collagen ; Congenital Abnormalities ; Deafness ; Fibrinogen ; Hip ; Humans ; Ligaments ; Male ; Orthopedics ; Osteogenesis Imperfecta ; Osteogenesis ; Osteotomy ; Sclera ; Surgeons ; Tibia ; Traction

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